ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3803A>G (p.Asn1268Ser)

dbSNP: rs273900716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV003157376 SCV003846260 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Invitae RCV003644883 SCV004517368 uncertain significance Hereditary breast ovarian cancer syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1268 of the BRCA1 protein (p.Asn1268Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with BRCA1-related conditions (PMID: 18627636). This variant is also known as 3922A>G. ClinVar contains an entry for this variant (Variation ID: 55011). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112190 SCV000144885 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2010-09-18 no assertion criteria provided clinical testing

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