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)
- conflicting
- association
- 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%)

 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
|
-?/. |
- |
c.-86C>A |
r.(=) |
p.(=) |
- |
likely benign |
g.1665330C>A |
g.1762036C>A |
- |
- |
SERPINF1_000085 |
85 heterozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs9913583 |
Germline |
- |
85/2795 individuals |
- |
- |
- |
Mohammed Faruq |
-?/. |
- |
c.-86C>A |
r.(=) |
p.(=) |
- |
likely benign |
g.1665330C>A |
g.1762036C>A |
- |
- |
SERPINF1_000085 |
1 homozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs9913583 |
Germline |
- |
1/2795 individuals |
- |
- |
- |
Mohammed Faruq |
+/+ |
1i |
c.-9+2dup |
r.spl |
p.? |
- |
pathogenic |
g.1665409dup |
- |
- |
- |
SERPINF1_000011 |
The variant in this patient is incorrectly described as c.1-4796dupT in {PMID23054245:Shaheen et al., 2012}. |
PubMed: Shaheen 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-/. |
- |
c.-9+17G>A |
r.(=) |
p.(=) |
- |
benign |
g.1665424G>A |
g.1762130G>A |
SERPINF1(NM_002615.7):c.-9+17G>A |
- |
SERPINF1_000083 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/+ |
2 |
c.1A>G |
r.(?) |
p.(Met1?) |
- |
pathogenic |
g.1670205A>G |
- |
- |
- |
SERPINF1_000048 |
- |
PubMed: Li 2019, Journal: Li 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Xiuli Zhao |
-?/. |
- |
c.15G>T |
r.(?) |
p.(=) |
- |
likely benign |
g.1670219G>T |
- |
SERPINF1(NM_002615.7):c.15G>T (p.V5=) |
- |
SERPINF1_000099 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-?/-? |
2 |
c.18A>G |
r.(?) |
(p.Leu6=) |
- |
likely benign |
g.1670222A>G |
- |
- |
- |
SERPINF1_000069 |
- |
PubMed: Barbirato 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-?/-? |
2 |
c.21C>A |
r.(?) |
(p.Leu7=) |
- |
likely benign |
g.1670225C>A |
- |
- |
- |
SERPINF1_000070 |
- |
PubMed: Barbirato 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
2 |
c.72dup |
r.(?) |
p.(Glu27Glyfs*38) |
- |
pathogenic |
g.1670276dup |
- |
c.72dupC |
- |
SERPINF1_000015 |
- |
PubMed: Cho 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-?/. |
- |
c.77C>G |
r.(?) |
p.(Pro26Arg) |
- |
likely benign |
g.1670281C>G |
- |
SERPINF1(NM_002615.5):c.77C>G (p.(Pro26Arg)) |
- |
SERPINF1_000094 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
+/+ |
2 |
c.77dup |
r.(?) |
p.(Glu27Glyfs*38) |
- |
pathogenic |
g.1670281dup |
- |
c.77dupC |
- |
SERPINF1_000051 |
- |
PubMed: Li 2019, Journal: Li 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Xiuli Zhao |
+?/. |
- |
c.80dup |
r.(?) |
p.(Glu28GlyfsTer37) |
- |
likely pathogenic |
g.1670284dup |
g.1766990dup |
80dupA |
- |
SERPINF1_000111 |
ACMG |
PubMed: Tuysuz 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
-?/. |
- |
c.84+15G>A |
r.(=) |
p.(=) |
- |
likely benign |
g.1670303G>A |
- |
SERPINF1(NM_002615.7):c.84+15G>A |
- |
SERPINF1_000087 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-?/-? |
2i |
c.84+40G>A |
r.(?) |
p.(=) |
- |
likely benign |
g.1670328G>A |
- |
- |
- |
SERPINF1_000066 |
- |
PubMed: Barbirato 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-/. |
- |
c.85-14C>T |
r.(=) |
p.(=) |
- |
benign |
g.1673132C>T |
g.1769838C>T |
SERPINF1(NM_002615.7):c.85-14C>T |
- |
SERPINF1_000071 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-?/. |
- |
c.151G>A |
r.(?) |
p.(Val51Met) |
- |
likely benign |
g.1673212G>A |
g.1769918G>A |
SERPINF1(NM_001329903.1):c.151G>A (p.(Val51Met)), SERPINF1(NM_002615.7):c.151G>A (p.V51M) |
- |
SERPINF1_000079 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-/. |
- |
c.151G>A |
r.(?) |
p.(Val51Met) |
- |
benign |
g.1673212G>A |
- |
SERPINF1(NM_001329903.1):c.151G>A (p.(Val51Met)), SERPINF1(NM_002615.7):c.151G>A (p.V51M) |
- |
SERPINF1_000079 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
-?/. |
- |
c.167C>G |
r.(?) |
p.(Ala56Gly) |
- |
likely benign |
g.1673228C>G |
- |
SERPINF1(NM_001329903.1):c.167C>G (p.(Ala56Gly)), SERPINF1(NM_002615.6):c.167C>G (p.A56G) |
- |
SERPINF1_000023 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
+/+ |
3 |
c.167C>G |
r.(?) |
p.(Ala56Gly) |
- |
pathogenic |
g.1673228C>G |
- |
- |
- |
SERPINF1_000023 |
- |
PubMed: Ziff 2016 |
- |
rs76119062 |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-/- |
3 |
c.167C>G |
r.(?) |
p.(Ala56Gly) |
- |
benign |
g.1673228C>G |
- |
- |
- |
SERPINF1_000023 |
- |
PubMed: Ji 2019 |
- |
rs76119062 |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
?/. |
- |
c.167C>G |
r.(?) |
p.(Ala56Gly) |
- |
VUS |
g.1673228C>G |
- |
SERPINF1(NM_001329903.1):c.167C>G (p.(Ala56Gly)), SERPINF1(NM_002615.6):c.167C>G (p.A56G) |
- |
SERPINF1_000023 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
+/. |
3 |
c.184G>A |
r.(?) |
p.(Gly62Ser) |
- |
pathogenic (recessive) |
g.1673245G>A |
g.1769951G>A |
- |
- |
SERPINF1_000033 |
- |
PubMed: Liu 2017 |
- |
- |
Germline |
- |
1/101 cases OI |
- |
- |
- |
Johan den Dunnen |
+/+ |
3 |
c.184G>A |
r.(?) |
p.(Gly62Ser) |
- |
pathogenic |
g.1673245G>A |
- |
- |
- |
SERPINF1_000033 |
- |
PubMed: Wang 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/. |
- |
c.188dup |
r.(?) |
p.(Tyr63Ter) |
- |
pathogenic |
g.1673249dup |
g.1769955dup |
188dupA |
- |
SERPINF1_000112 |
ACMG BS1, BS2, BP4 |
PubMed: Tuysuz 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
-?/. |
- |
c.202G>C |
r.(?) |
p.(Val68Leu) |
- |
likely benign |
g.1673263G>C |
g.1769969G>C |
SERPINF1(NM_002615.5):c.202G>C (p.(Val68Leu)), SERPINF1(NM_002615.7):c.202G>C (p.V68L) |
- |
SERPINF1_000080 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
-?/. |
- |
c.202G>C |
r.(?) |
p.(Val68Leu) |
- |
likely benign |
g.1673263G>C |
g.1769969G>C |
SERPINF1(NM_002615.5):c.202G>C (p.(Val68Leu)), SERPINF1(NM_002615.7):c.202G>C (p.V68L) |
- |
SERPINF1_000080 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-/. |
- |
c.215C>T |
r.(?) |
p.(Thr72Met) |
- |
benign |
g.1673276C>T |
g.1769982C>T |
SERPINF1(NM_002615.7):c.215C>T (p.T72M) |
- |
SERPINF1_000040 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Groningen |
-/. |
- |
c.215C>T |
r.(?) |
p.(Thr72Met) |
- |
benign |
g.1673276C>T |
g.1769982C>T |
SERPINF1(NM_002615.7):c.215C>T (p.T72M) |
- |
SERPINF1_000040 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-?/? |
3 |
c.215C>T |
r.(?) |
p.Thr72Met |
- |
likely benign |
g.1673276C>T |
- |
- |
- |
SERPINF1_000040 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Ahmed Khairy Saad |
-?/. |
- |
c.242C>G |
r.(?) |
p.(Ser81Cys) |
- |
likely benign |
g.1673303C>G |
- |
SERPINF1(NM_002615.6):c.242C>G (p.S81C) |
- |
SERPINF1_000029 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Rotterdam |
?/? |
3 |
c.242C>G |
r.(?) |
p.(Ser81Cys) |
- |
VUS |
g.1673303C>G |
- |
- |
- |
SERPINF1_000029 |
- |
PubMed: Essawi 2018 |
- |
rs140512665 |
Germline |
- |
- |
- |
- |
- |
Sofie Symoens |
+/+ |
3 |
c.248_249del |
r.(?) |
p.(Leu83Glnfs*28) |
- |
pathogenic |
g.1673309_1673310del |
- |
- |
- |
SERPINF1_000049 |
- |
PubMed: Li 2019, Journal: Li 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Xiuli Zhao |
+?/? |
3 |
c.250dup |
r.(?) |
p.(Ser84Lysfs*28) |
- |
likely pathogenic |
g.1673311dup |
- |
c.250dupA |
- |
SERPINF1_000059 |
- |
PubMed: Mrosk 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.261_265dup |
r.(?) |
p.(Leu89Argfs*26) |
- |
pathogenic |
g.1673322_1673326dup |
- |
- |
- |
SERPINF1_000046 |
- |
PubMed: Li 2019, Journal: Li 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Xiuli Zhao |
+/+ |
3 |
c.261_265dup |
r.(?) |
p.(Leu89Argfs*26) |
- |
pathogenic |
g.1673322_1673326dup |
- |
- |
- |
SERPINF1_000046 |
- |
PubMed: Li 2019, Journal: Li 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Xiuli Zhao |
+/. |
- |
c.261_265dup |
r.(?) |
p.(Leu89Argfs*26) |
- |
pathogenic (recessive) |
g.1673322_1673326dup |
g.1770028_1770032dup |
259_260insCGGCC |
- |
SERPINF1_000098 |
- |
PubMed: Zhalsanova 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Kim Worring |
+/. |
- |
c.263_267dup |
r.(?) |
p.(Ser90ProfsTer25) |
- |
pathogenic |
g.1673324_1673328dup |
g.1770030_1770034dup |
SERPINF1(NM_002615.7):c.263_267dupCCCTC (p.S90Pfs*25) |
- |
SERPINF1_000081 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/. |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic (recessive) |
g.1673332_1673340dup |
g.1770038_1770046dup |
271_279dupGCCCTCTCG |
- |
SERPINF1_000007 |
- |
PubMed: Liu 2017 |
- |
- |
Germline |
- |
1/101 cases OI |
- |
- |
- |
Johan den Dunnen |
+/. |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic (recessive) |
g.1673332_1673340dup |
g.1770038_1770046dup |
271_279dupGCCCTCTCG |
- |
SERPINF1_000007 |
- |
PubMed: Liu 2017 |
- |
- |
Germline |
- |
1/101 cases OI |
- |
- |
- |
Johan den Dunnen |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
homozygous for a missense variant (c.613G>A) in the CTNS gene which results in cystinosis in addition to OI. |
PubMed: Tucker 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Rauch 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Rauch 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Rauch 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Wang 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Wang 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Caparros-Martin 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Caparros-Martin 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3 |
c.271_279dup |
r.(?) |
p.(Ala91_Ser93dup) |
- |
pathogenic |
g.1673332_1673340dup |
- |
- |
- |
SERPINF1_000007 |
- |
PubMed: Li 2019, Journal: Li 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Xiuli Zhao |
+/+ |
3_3i |
c.273_283+1del |
r.spl |
p.? |
- |
pathogenic |
g.1673334_1673345del |
- |
- |
- |
SERPINF1_000035 |
- |
PubMed: Caparros-Martin 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+?/? |
3 |
c.277_278dup |
r.(?) |
p.(Leu94Argfs*20) |
- |
likely pathogenic |
g.1673338_1673339dup |
- |
- |
- |
SERPINF1_000057 |
- |
PubMed: Mrosk 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/. |
- |
c.278C>A |
r.(?) |
p.(Ser93*) |
ACMG |
likely pathogenic (recessive) |
g.1673339C>A |
- |
- |
- |
SERPINF1_000093 |
ACMG PVS1, PM2 |
PubMed: Kuptanon 2022, Journal: Kuptanon 2022 |
ClinVar-SCV001976359 |
- |
Germline |
- |
- |
- |
- |
- |
Thanakorn Theerapanon |
+/. |
3i |
c.283+1G>T |
r.spl |
p.? |
- |
pathogenic (recessive) |
g.1673345G>T |
g.1770051G>T |
- |
- |
SERPINF1_000030 |
- |
PubMed: Liu 2017 |
- |
- |
Germline |
- |
1/101 cases OI |
- |
- |
- |
Johan den Dunnen |
+/+ |
3i |
c.283+1G>T |
r.spl |
p.? |
- |
pathogenic |
g.1673345G>T |
- |
- |
- |
SERPINF1_000030 |
- |
PubMed: Wang 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
3i_5i |
c.283+485_643+116del |
r.spl |
p.(Ala96_Gly215del) |
- |
pathogenic |
g.1673829_1675485del |
- |
- |
- |
SERPINF1_000045 |
The variant in this proband is incorrectly described by the authors as c.283+473_643+104del.; The proband is homozygous for the variant because of uniparental disomy for the paternal allele. The mother does not harbour the variant. |
PubMed: Zhang 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.295C>T |
r.(?) |
p.(Arg99*) |
- |
pathogenic |
g.1674334C>T |
- |
- |
- |
SERPINF1_000004 |
The published mutation is incorrectly described as ENSG00000132386:g.4130C>T. This patient was previously described as Patient 1 in {PMID11771667:Glorieux et al., 2002} and subsequently as Patient 1 in {PMID22669302:Rauch et al., 2012}. The patients brother (IV-4) is Patient 2 in these two publications. The distantly related affected relative V-1 is Patient 10 in the latter publication. |
PubMed: Homan 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.295C>T |
r.(?) |
p.(Arg99*) |
- |
pathogenic |
g.1674334C>T |
- |
- |
- |
SERPINF1_000004 |
- |
PubMed: Rauch 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.295C>T |
r.(?) |
p.(Arg99*) |
- |
pathogenic |
g.1674334C>T |
- |
- |
- |
SERPINF1_000004 |
- |
PubMed: Rauch 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.295C>T |
r.(?) |
p.(Arg99*) |
- |
pathogenic |
g.1674334C>T |
- |
- |
- |
SERPINF1_000004 |
- |
PubMed: Rauch 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.324_325dup |
r.(?) |
p.(Tyr109Serfs*5) |
- |
pathogenic |
g.1674363_1674364dup |
- |
- |
- |
SERPINF1_000002 |
- |
PubMed: Becker 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.331G>A |
r.(?) |
p.(Asp111Asn) |
- |
pathogenic |
g.1674370G>A |
- |
- |
- |
SERPINF1_000024 |
- |
PubMed: Ziff 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
?/. |
- |
c.336G>T |
r.(?) |
p.(Leu112Phe) |
- |
VUS |
g.1674375G>T |
- |
SERPINF1(NM_002615.7):c.336G>T (p.(Leu112Phe)) |
- |
SERPINF1_000108 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
-?/. |
- |
c.384G>A |
r.(?) |
p.(Thr128=) |
- |
likely benign |
g.1674423G>A |
- |
SERPINF1(NM_002615.7):c.384G>A (p.T128=) |
- |
SERPINF1_000090 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-/. |
- |
c.390T>C |
r.(?) |
p.(Thr130=) |
- |
benign |
g.1674429T>C |
g.1771135T>C |
SERPINF1(NM_002615.7):c.390T>C (p.T130=) |
- |
SERPINF1_000043 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
?/? |
4 |
c.390T>C |
r.(?) |
p.Thr130= |
- |
VUS |
g.1674429T>C |
- |
- |
- |
SERPINF1_000043 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Ahmed Khairy Saad |
-?/. |
- |
c.392C>A |
r.(?) |
p.(Ala131Asp) |
- |
likely benign |
g.1674431C>A |
g.1771137C>A |
SERPINF1(NM_002615.7):c.392C>A (p.(Ala131Asp), p.A131D) |
- |
SERPINF1_000025 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/- |
4 |
c.392C>A |
r.(?) |
p.(Ala131Asp) |
- |
pathogenic |
g.1674431C>A |
- |
- |
- |
SERPINF1_000025 |
- |
PubMed: Ziff 2016 |
- |
rs148005190 |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-?/. |
- |
c.392C>A |
r.(?) |
p.(Ala131Asp) |
- |
likely benign |
g.1674431C>A |
- |
SERPINF1(NM_002615.7):c.392C>A (p.(Ala131Asp), p.A131D) |
- |
SERPINF1_000025 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
-/. |
- |
c.395C>G |
r.(?) |
p.(Pro132Arg) |
- |
benign |
g.1674434C>G |
g.1771140C>G |
SERPINF1(NM_002615.7):c.395C>G (p.P132R) |
- |
SERPINF1_000073 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/. |
- |
c.397C>T |
r.(?) |
p.(Gln133*) |
- |
pathogenic |
g.1674436C>T |
g.1771142C>T |
- |
- |
SERPINF1_000034 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Muhammad Umair |
+/+ |
4 |
c.397C>T |
r.(?) |
p.(Gln133*) |
- |
pathogenic |
g.1674436C>T |
- |
- |
- |
SERPINF1_000034 |
- |
PubMed: Wang 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.397C>T |
r.(?) |
p.(Gln133*) |
- |
pathogenic |
g.1674436C>T |
- |
- |
- |
SERPINF1_000034 |
- |
PubMed: Li 2019, Journal: Li 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Xiuli Zhao |
+/+ |
4 |
c.421dup |
r.(?) |
p.(Arg141Profs*5) |
- |
pathogenic |
g.1674460dup |
- |
c.421dupC |
- |
SERPINF1_000016 |
- |
PubMed: Cho 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4 |
c.423del |
r.(?) |
p.(Ile142Serfs*9) |
- |
pathogenic |
g.1674462del |
- |
c.423delG |
- |
SERPINF1_000006 |
- |
PubMed: Venturi 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-?/. |
- |
c.439+7C>T |
r.(=) |
p.(=) |
- |
likely benign |
g.1674485C>T |
- |
SERPINF1(NM_002615.7):c.439+7C>T |
- |
SERPINF1_000107 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/+ |
4i |
c.439+34C>T |
r.spl |
p.? |
- |
pathogenic |
g.1674512C>T |
- |
- |
- |
SERPINF1_000052 |
- |
PubMed: Jin 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
4i |
c.439+127_643+545del |
r.spl |
p.Lys147_Gly215delinsArg |
- |
pathogenic |
g.1674605_1675914del |
- |
- |
- |
SERPINF1_000009 |
- |
PubMed: Rauch 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-?/. |
- |
c.440-338G>A |
r.(=) |
p.(=) |
- |
likely benign |
g.1674828G>A |
- |
SERPINF1(NM_002615.7):c.440-338G>A |
- |
SERPINF1_000100 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-?/. |
- |
c.440-338G>C |
r.(=) |
p.(=) |
- |
likely benign |
g.1674828G>C |
- |
SERPINF1(NM_002615.7):c.440-338G>C |
- |
SERPINF1_000102 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/+ |
4i |
c.440-40_440-38del |
r.spl |
p.? |
- |
pathogenic |
g.1675126_1675128del |
- |
c.440-40_440-38delTCG |
- |
SERPINF1_000026 |
The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The deletion (c.-202_-200delTCG) results in altered expression of that transcript. |
PubMed: Ziff 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-/? |
4i |
c.440-39C>T |
r.(?) |
p.(=) |
- |
benign |
g.1675127C>T |
- |
- |
- |
SERPINF1_000039 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Ahmed Khairy Saad |
?/? |
4i |
c.440-39C>T |
r.(?) |
p.(=) |
- |
VUS |
g.1675127C>T |
- |
- |
- |
SERPINF1_000039 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Ahmed Khairy Saad |
?/- |
4i |
c.440-28C>T |
r.(?) |
p.(=) |
- |
VUS |
g.1675138C>T |
- |
- |
- |
SERPINF1_000041 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
Ahmed Khairy Saad |
+/+ |
5 |
c.(439+1_440-1)_(643+1_644-1)del |
r.(?) |
p.(Lys147_Gly215delinsArg) |
- |
pathogenic |
g.(1674479_1675165)_(1675370_1678351)del |
g.(1771185_1771871)_(1772076_1775057)del |
c.440-?_643+?del |
- |
SERPINF1_000017 |
- |
PubMed: Rauch 2014 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
5 |
c.441G>C |
r.(?) |
p.(Lys147Asn) |
- |
pathogenic |
g.1675167G>C |
- |
- |
- |
SERPINF1_000027 |
The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-161G>C) results in altered expression of that transcript. |
PubMed: Ziff 2016 |
- |
rs138341386 |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
5 |
c.441G>C |
r.(?) |
p.(Lys147Asn) |
- |
pathogenic |
g.1675167G>C |
- |
- |
- |
SERPINF1_000027 |
The reported variant in this patient lies in the 5´UTR of an alternative transcript (ENST00000573763.1) which is the major transcript in stapes bone. The substitution (c.-161G>C) results in altered expression of that transcript. |
PubMed: Ziff 2016 |
- |
rs138341386 |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
?/. |
- |
c.446G>A |
r.(?) |
p.(Arg149His) |
- |
VUS |
g.1675172G>A |
g.1771878G>A |
SERPINF1(NM_002615.5):c.446G>A (p.(Arg149His)) |
- |
SERPINF1_000074 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Leiden |
+/. |
5 |
c.498_499del |
r.(?) |
p.(Arg167Serfs*35) |
- |
pathogenic (recessive) |
g.1675224_1675225del |
g.1771930_1771931del |
498_499delCA |
- |
SERPINF1_000031 |
- |
PubMed: Liu 2017 |
- |
- |
Germline |
- |
1/101 cases OI |
- |
- |
- |
Johan den Dunnen |
+/+ |
5 |
c.498_499del |
r.(?) |
p.(Arg167Serfs*35) |
- |
pathogenic |
g.1675224_1675225del |
- |
- |
- |
SERPINF1_000031 |
- |
PubMed: Wang 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
5 |
c.532C>T |
r.(?) |
p.(Gln178*) |
- |
pathogenic |
g.1675258C>T |
- |
- |
- |
SERPINF1_000021 |
- |
PubMed: Stephen 2015 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
5 |
c.540dup |
r.(?) |
p.(Asn181Glnfs*22) |
- |
pathogenic |
g.1675266dup |
- |
c.540dupC |
- |
SERPINF1_000018 |
This variant has been reported in the heterozygous state, but leads to a premature stop codon and is therefore clearly pathogenic. |
PubMed: Al-Jallad 2014 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
-?/. |
- |
c.577G>A |
r.(?) |
p.(Ala193Thr) |
- |
likely benign |
g.1675303G>A |
- |
SERPINF1(NM_002615.7):c.577G>A (p.A193T) |
- |
SERPINF1_000089 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+/+ |
5 |
c.601G>A |
r.(?) |
p.(Asp201Asn) |
- |
pathogenic |
g.1675327G>A |
- |
- |
- |
SERPINF1_000028 |
- |
PubMed: Ziff 2016 |
- |
rs137997656 |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+/+ |
5 |
c.620T>G |
r.(?) |
p.(Leu20Arg) |
- |
pathogenic |
g.1675346T>G |
- |
- |
- |
SERPINF1_000053 |
- |
PubMed: Mohd Nawawi 2018 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
?/. |
- |
c.620T>G |
r.(?) |
p.(Leu207Arg) |
- |
VUS |
g.1675346T>G |
g.1772052T>G |
- |
- |
SERPINF1_000053 |
ACMG PVS1, PM2, PP3 |
PubMed: Tuysuz 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
- |
c.621_623del |
r.(?) |
p.(Leu208del) |
- |
likely pathogenic |
g.1675347_1675349del |
g.1772053_1772055del |
- |
- |
SERPINF1_000113 |
ACMG PM2, PP3, PM6 |
PubMed: Tuysuz 2022 |
VCV000684741.1 |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
-?/. |
- |
c.643+6C>T |
r.(=) |
p.(=) |
- |
likely benign |
g.1675375C>T |
- |
SERPINF1(NM_002615.7):c.643+6C>T |
- |
SERPINF1_000095 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-/. |
- |
c.643+8C>T |
r.(=) |
p.(=) |
- |
benign |
g.1675377C>T |
g.1772083C>T |
SERPINF1(NM_002615.7):c.643+8C>T |
- |
SERPINF1_000075 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
-/. |
- |
c.643+9G>A |
r.(=) |
p.(=) |
- |
benign |
g.1675378G>A |
g.1772084G>A |
SERPINF1(NM_002615.7):c.643+9G>A |
- |
SERPINF1_000076 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_VUmc |
+?/-? |
5i |
c.643+82T>C |
r.spl |
p.? |
- |
likely pathogenic |
g.1675451T>C |
- |
- |
- |
SERPINF1_000067 |
- |
PubMed: Barbirato 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |
+?/-? |
5i |
c.643+82T>C |
r.spl |
p.? |
- |
likely pathogenic |
g.1675451T>C |
- |
- |
- |
SERPINF1_000067 |
- |
PubMed: Barbirato 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Raymond Dalgleish |