Global Variome shared LOVD
BMPR1A (bone morphogenetic protein receptor, type IA)
LOVD v.3.0 Build 28d [
Current LOVD status
]
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Curators:
Karl Heinimann
,
Robert Blatter
, and
Benjamin Tschupp
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All variants in the BMPR1A gene
The variants shown are described using the NM_004329.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
418 entries on 5 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Owner
+/.
_1_3i
c.(?_-119300)_(67+1_68-1)del
r.0?
p.0?
-
pathogenic (dominant)
g.(?_88397644)_(88635843_88649818)del
-
‐119300‐?_67+?del
-
BMPR1A_000106
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
_1_13_
c.(?_-119300)_(*1469_?)del
r.0
p.0
-
pathogenic (dominant)
g.(?_88397644)_(89728532_?)del
-
BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del
-
BMPR1A_000107
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
-
c.-1077T>C
r.(?)
p.(=)
-
likely benign
g.88515867T>C
g.86756110T>C
BMPR1A(NM_004329.3):c.-1077T>C
-
BMPR1A_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
-
c.-1063G>C
r.(?)
p.(=)
-
benign
g.88515881G>C
g.86756124G>C
BMPR1A(NM_004329.3):c.-1063G>C
-
BMPR1A_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
-
c.-978G>A
r.(?)
p.(=)
-
benign
g.88515966G>A
g.86756209G>A
BMPR1A(NM_004329.3):c.-978G>A
-
BMPR1A_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
-
c.-934G>A
r.(?)
p.(=)
-
benign
g.88516010G>A
g.86756253G>A
BMPR1A(NM_004329.3):c.-934G>A
-
BMPR1A_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
-
c.-876G>T
r.(?)
p.(=)
-
likely benign
g.88516068G>T
g.86756311G>T
BMPR1A(NM_004329.3):c.-876G>T
-
BMPR1A_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
-
c.-854G>C
r.(?)
p.(=)
-
benign
g.88516090G>C
g.86756333G>C
BMPR1A(NM_004329.3):c.-854G>C
-
BMPR1A_000141
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
-
c.-785T>C
r.(?)
p.(=)
-
likely benign
g.88516159T>C
g.86756402T>C
BMPR1A(NM_004329.3):c.-785T>C
-
BMPR1A_000158
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
-
c.-774T>G
r.(?)
p.(=)
-
benign
g.88516170T>G
g.86756413T>G
BMPR1A(NM_004329.3):c.-774T>G
-
BMPR1A_000142
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
-
c.-658C>T
r.(?)
p.(=)
-
likely benign
g.88516286C>T
g.86756529C>T
BMPR1A(NM_004329.3):c.-658C>T
-
BMPR1A_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
-
c.-602C>T
r.(?)
p.(=)
-
benign
g.88516342C>T
g.86756585C>T
BMPR1A(NM_004329.3):c.-602C>T
-
BMPR1A_000144
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/?
_1_1i
c.(?_-548)_(-268+1_-267-1)del
r.0?
p.0?
ACMG
VUS
g.(?_88516396)_(88516677_88598621)del
-
del promotor_first non-coding exon
-
BMPR1A_000108
ACMG PVS1
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_1i
c.(?_-548)_(-268+1_-267-1)del
r.0?
p.0?
ACMG
VUS
g.(?_88516396)_(88516677_88598621)del
-
del promotor_first non-coding exon
-
BMPR1A_000108
ACMG PVS1, PS2
Journal: Barros 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_2i
c.(?_-548)_(-153+1_-152-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88598737_88635623)del
-
del promotor B_ex2
-
BMPR1A_000109
ACMG PVS1, PP1-S
Journal: Calva-Cerqueira 2010
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
pathogenic
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PP1-S, PM2
Journal: Cao 2006
,
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_3i
c.(?_-548)_(67+1_68-1)del
r.0?
p.0?
ACMG
VUS
g.(?_88516396)_(88635843_88649818)del
-
5'UTR - Exon 1 del
-
BMPR1A_000110
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/?
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
hemizygous deletion
-
BMPR1A_000111
ACMG PVS1
PubMed: van Hattem 2008
,
Journal: van Hattem 2008
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/?
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
hemizygous deletion
-
BMPR1A_000111
ACMG PVS1
PubMed: van Hattem 2008
,
Journal: van Hattem 2008
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XY,del(10)(q23.2q24.1)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XX.ish del(10)(q23.2q23.3)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
Germline/De novo (untested)
-
-
-
-
-
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XX.ish del(10)(q23.2q23.3)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q23.3)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Dadaleh 2012
-
-
De novo
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
10q23 deletion
-
BMPR1A_000111
ACMG PVS1, PM2
Journal: Hiljadnikova Bajro 2013
-
-
Germline/De novo (untested)
-
-
-
-
-
Karl Heinimann
+/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
pathogenic
g.(?_88516396)_(88684945_?)del
-
del(10)(q.22.3q.24.1)
-
BMPR1A_000111
ACMG PVS1, PM2
{DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W}
-
-
De novo
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q23.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
De novo
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q24.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XX.ish del(10)(q23.2q23.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
De novo
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XY.ish del(10)(q23.2q23.31)
-
BMPR1A_000111
ACMG PVS1, PS2
Journal: Menko 2008
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
1-?_1599del?
-
BMPR1A_000111
ACMG PVS1, PM2
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
46,XX del(10)(q22.3q23.33)dn
-
BMPR1A_000111
ACMG PVS1, PM2, PS2
Journal: Salviati 2006
-
-
De novo
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
10q23del and 1p31.3del
-
BMPR1A_000111
ACMG PVS1, PM2
Journal: Septer 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.(?_-548)_(*1469_?)del
r.0
p.0
ACMG
VUS
g.(?_88516396)_(88684945_?)del
-
del(10)(q23.2q23.33)
-
BMPR1A_000111
ACMG PVS1, PM2
{DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3}
-
-
Germline/De novo (untested)
-
-
-
-
-
Karl Heinimann
-?/.
-
c.-547C>T
r.(?)
p.(=)
-
likely benign
g.88516397C>T
g.86756640C>T
BMPR1A(NM_004329.3):c.-547C>T
-
BMPR1A_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2i_3i
c.(-153+1_-152-1)_(67+1_68-1)del
p.0?
p.0?
-
pathogenic (dominant)
g.(88598737_88635623)_(88635843_88649818)del
-
‐50‐?_67+?del
-
BMPR1A_000112
-
PubMed: Aretz 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
-
c.-25A>G
r.(=)
p.(=)
-
benign
g.88635751A>G
g.86875994A>G
-
-
BMPR1A_000007
-
-
-
rs116346662
Germline
-
-
-
-
-
Andreas Laner
?/+
3
c.-24_-14del
r.(?)
p.(?)
ACMG
VUS
g.88635752_88635762del
g.86875995_86876005del
ex2 11 bp del
-
BMPR1A_000113
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.-24_-14del
r.(?)
p.(?)
ACMG
VUS
g.88635752_88635762del
g.86875995_86876005del
ex2 11 bp del
-
BMPR1A_000113
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.-24_-14del
r.(?)
p.(?)
ACMG
VUS
g.88635752_88635762del
g.86875995_86876005del
ex2 11 bp del
-
BMPR1A_000113
ACMG PVS1, PM2
Journal: Cheah 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.0
r.0
p.0
ACMG
VUS
g.(?_88490000_89750000_?)del
-
del entire BMPR1a and PTEN genes
-
BMPR1A_000105
ACMG PVS1
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
_1_13_
c.0
r.0
p.0
ACMG
VUS
g.(?_88490000_89750000_?)del
-
hemizygous del BMPR1A and PTEN
-
BMPR1A_000105
ACMG PVS1, PM2
PubMed: Sweet 2005
,
Journal: Sweet 2005
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
1_13_
c.0
r.0
p.0
-
pathogenic
g.(?_88450000)_(89750000_?)del
-
>1.2Mb del BMPR1A/PTEN
-
BMPR1A_000105
patient also carries 46,XX,t(2;10)(q31;p15) (?_88450000)_(89750000_?)del
PubMed: Delnatte 2006
-
-
Germline
-
-
-
-
-
Karl Heinimann
+/+
_1_13_
c.0
r.0
p.0
ACMG
pathogenic
g.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv]
-
-
46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2)
BMPR1A_000105
ACMG PVS1, PS2
PubMed: Zigman 1997
-
-
De novo
-
-
-
-
-
Karl Heinimann
+/+
_1_13_
c.0
r.0
p.0
ACMG
pathogenic
g.(82000001_87900000)_(99300001_101900000)del
-
46,XX,del(10)(q23.1q24.2)
-
BMPR1A_000105
ACMG PVS1, PS2 82000001_101900000
PubMed: Zigman 1997
-
-
De novo
-
-
-
-
-
Karl Heinimann
?/.
-
c.?
r.(?)
p.(Phe397Ser)
-
VUS
g.?
-
-
-
CYP2C9_001038
-
PubMed: Heidet 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/+
3
c.1A>C
r.0?
p.0?
-
VUS
g.88635776A>C
g.86876019A>C
M1L
-
BMPR1A_000059
-
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
-
likely pathogenic
g.88635778G>A
g.86876021G>A
-
-
BMPR1A_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
-
c.4C>A
r.(?)
p.(Pro2Thr)
-
benign
g.88635779C>A
g.86876022C>A
BMPR1A(NM_004329.2):c.4C>A (p.P2T), BMPR1A(NM_004329.3):c.4C>A (p.P2T)
-
BMPR1A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
-
c.4C>A
r.(?)
p.(Pro2Thr)
-
benign
g.88635779C>A
g.86876022C>A
BMPR1A(NM_004329.2):c.4C>A (p.P2T), BMPR1A(NM_004329.3):c.4C>A (p.P2T)
-
BMPR1A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
-
c.4C>A
r.(?)
p.(Pro2Thr)
-
benign
g.88635779C>A
g.86876022C>A
BMPR1A(NM_004329.2):c.4C>A (p.P2T), BMPR1A(NM_004329.3):c.4C>A (p.P2T)
-
BMPR1A_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_7delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Calva-Cerqueira 2009
,
Journal: Calva-Cerqueira 2009
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP1, PP3
PubMed: Howe 2001
,
Journal: Howe 2001
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Howe 2004
,
Journal: Howe 2004
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44-47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
PubMed: Sayed 2002
,
Journal: Sayed 2002
-
-
Germline
-
-
-
-
-
Karl Heinimann
?/+
3
c.44_47del
r.(?)
p.(Leu15Serfs*20)
ACMG
VUS
g.88635819_88635822del
g.86876062_86876065del
44_47delTGTT
-
BMPR1A_000060
ACMG PVS1, PM2, PM4, PP3
Journal: Ngeow 2013
-
-
Germline
-
-
-
-
-
Karl Heinimann
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