Submissions for variant NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)

dbSNP: rs80358549

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000113382	SCV000784992	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2017-03-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182331	SCV001347763	uncertain significance	Hereditary cancer-predisposing syndrome	2019-04-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001364084	SCV001560216	uncertain significance	Hereditary breast ovarian cancer syndrome	2023-05-05	criteria provided, single submitter	clinical testing	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. 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 BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 51390). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 102 of the BRCA2 protein (p.Lys102Arg).
MGZ Medical Genetics Center	RCV003607211	SCV002580109	likely benign	Familial cancer of breast	2024-02-09	criteria provided, single submitter	clinical testing	ACMG codes applied following ENIGMA VCEP rules: BP1_STR, PM2_SUP
Ambry Genetics	RCV001182331	SCV002752949	likely benign	Hereditary cancer-predisposing syndrome	2020-03-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV004808565	SCV005436872	uncertain significance	not provided	2024-10-01	criteria provided, single submitter	clinical testing	BRCA2: PM2, BP4
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113382	SCV000146539	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2002-05-29	no assertion criteria provided	clinical testing