ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9425A>G (p.Asp3142Gly) (rs80359216)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657021 SCV000279317 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9425A>G at the cDNA level, p.Asp3142Gly (D3142G) at the protein level, and results in the change of an Aspartic Acid to a Glycine (GAT>GGT). This variant, also known as BRCA2 9653A>G using alternate nomenclature, was reported in at least one woman with ovarian cancer (Akbari 2011). BRCA2 Asp3142Gly was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Aspartic Acid and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Asp3142Gly occurs at a position that is not conserved and is located in the DNA binding domain (Yang 2002). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Asp3142Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl RCV000083159 SCV000488828 uncertain significance Breast-ovarian cancer, familial 2 2016-06-24 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000213617 SCV000592286 uncertain significance not specified 2014-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509927 SCV000607761 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing
Color RCV000509927 SCV000689195 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083159 SCV000115233 uncertain significance Breast-ovarian cancer, familial 2 2011-06-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083159 SCV000147634 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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