Variant #0000092195 (NC_000019.9:g.11215949T>C, LDLR(NM_000527.4):c.367T>C)

Individual ID 00061186
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method ACGS
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.11215949T>C
DNA change (hg38) g.11105273T>C
Published as S102P
ISCN -
DB-ID LDLR_001226 See all 2 reported entries
Variant remarks Found as compound Htz with FH Frosinone-2 (c.1478_1479delCT, p.(Ser493Cysfs*42)), segregates with FH and results in 32% LDLR activity when Htz with c.1478_1479delCT, p.(Ser493Cysf*42). Not present on 150 normal chromosomes. Uncharged-polar>Non-polar
Reference PubMed: Romano 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.02 in this study. not in ExAC, May 2015
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sarah Leigh
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

RNA change     

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Enzyme activity     
LDLR NM_000527.4 -?/-? 4 c.367T>C r.(?) p.(Ser123Pro) polymorphism LDL-receptor class A3 PPII HumDiv benign, 0.017; HumVar benign, 0.101 Tolerated; SIFT2 Not tolerated 0.616; (Ch, M, Ra, H, Rb, Ck, X, S) SplicePort 98 (exon 4A), 100 (exon 4D); NNSSP 100 (exon 4A), 100 (exon 4D) 32% LDLR activity when Htz with c.1478_1479delCT (FH Frosinone-2)



Screenings


AscendingScreening ID     

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Remarks     

Genes screened     

Variants found     

Owner     
0000061175 DNA SEQ - - LDLR 1 Sarah Leigh