| Geno
|
Mag
|
Summary
|
| (A;T)
|
6
|
considered a pathogenic BRCA1 breast cancer variant
|
| (C;T)
|
6
|
considered a pathogenic BRCA1 breast cancer variant
|
| (G;G)
|
6
|
considered a pathogenic BRCA1 breast cancer variant
|
| (G;T)
|
6
|
considered a pathogenic BRCA1 breast cancer variant
|
| (T;T)
|
0
|
normal
|
rs28897672 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 61. The more common rs28897672(T) allele encodes Cys, while the rare rs28897672(G) allele encodes Gly; this variation is also known as c.181T>G, 300T>G, Cys61Gly or C61G.
An additional two alternate alleles, c.181T>A and c.181T>C, are also known, and both are annotated in ClinVar as also pathogenic for breast cancer, however, by only a single submitter.
A study of 66 Polish families affected with breast cancer or ovarian cancer, often diagnosed at a relatively young age (< 50 years old), screened for BRCA1 mutations by sequencing. The C61G mutation accounted for 20% of the identified mutations in this group of families.[PMID 10788334
]
| ClinVar
|
| Risk
|
rs28897672(A;A) rs28897672(C;C) Rs28897672(G;G) |
| Alt
|
rs28897672(A;A) rs28897672(C;C) Rs28897672(G;G) |
| Reference
|
Rs28897672(T;T) |
| Significance |
Other |
| Disease |
Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast Neoplasm of breast Breast carcinoma |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast Neoplasm of breast Breast carcinoma |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41258504A>C; NC_000017.10:g.41258504A>G; NC_000017.10:g.41258504A>T |
| CLNSRC |
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000019229.11, RCV000047597.9, RCV000131902.4, RCV000159935.4, RCV000239114.1, RCV000412714.1, RCV000415051.1, RCV000047596.2, RCV000111959.1, RCV000047595.2, RCV000258244.1, |
[PMID 30820179] Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.
]
