| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal
|
| (C;G)
|
2
|
BRCA1 variant that is probably benign
|
| (C;T)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
| (T;T)
|
2
|
predisposition to breast cancer?
|
rs41293455 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1443. The more common rs41293455(C) allele encodes Arg, while the rare rs41293455(T) allele encodes a stop codon (aka c.4327C>T, p.Arg1443Ter). Another variant, rs41293455(G), encodes a Gly (aka c.4327C>G or p.Arg1443Gly); this variant appears to be benign by consensus in ClinVar.
A well known study published in 1994 looked at 50 family pedigrees with breast cancer and ovarian cancer susceptibility, discovering what they believed were eight putative disease-causing mutations (four frameshifts, two nonsense mutations) and an additional two missense mutations. rs41293455 was one of these variants. [PMID 7894491]
| ClinVar
|
| Risk
|
rs41293455(G;G) Rs41293455(T;T) |
| Alt
|
rs41293455(G;G) Rs41293455(T;T) |
| Reference
|
Rs41293455(C;C) |
| Significance |
Other |
| Disease |
Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided not specified |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not provided not specified |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41234451G>A; NC_000017.10:g.41234451G>C |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000019244.15, RCV000048523.7, RCV000131880.3, RCV000159989.2, RCV000235131.2, RCV000239083.1, RCV000019245.8, RCV000048522.4, RCV000129043.3, RCV000427206.1, |
