ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)

dbSNP: rs80359360
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081551 SCV000072090 likely benign Hereditary breast ovarian cancer syndrome 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000221597 SCV000273079 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-30 criteria provided, single submitter clinical testing The c.2860_2862delGAG variant (also known as p.E954del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame GAG deletion at nucleotide positions 2860 to 2862. This results in the in-frame deletion of a glutamic acid at codon 954. This variant has been reported in one high risk breast/ovarian cancer family; however, this family also carried a pathogenic mutation in BRCA1 (Simard J et al. J. Med. Genet., 2007 Feb;44:107-21). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000113108 SCV000489209 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000657153 SCV000573348 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing In-frame deletion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual from a family at high risk for Hereditary Breast and Ovarian Cancer syndrome who also harbored a pathogenic BRCA1 variant (Simard et al., 2007); In silico analysis supports a deleterious effect on protein structure/function; Also known as 3088_3090delGAG; This variant is associated with the following publications: (PMID: 23929434, 16905680)
Color Diagnostics, LLC DBA Color Health RCV000221597 SCV000906895 likely benign Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798230 SCV002042583 uncertain significance Breast and/or ovarian cancer 2020-12-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113108 SCV000146133 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000482589 SCV000591829 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing

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