ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3080G>A (p.Ser1027Asn) (rs80357386)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481809 SCV000564732 uncertain significance not provided 2015-01-19 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3080G>A at the cDNA level, p.Ser1027Asn (S1027N) at the protein level, and results in the change of a Serine to an Asparagine (AGC>AAC). Using alternate nomenclature, this variant would be defined as BRCA1 3199G>A. Evolutionary conservation models have been applied to this variant to predict its effect, with inconsistent results (Fleming 2003, Pavlicek 2004, Burk-Herrick 2006). BRCA1 Ser1027Asn was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Serine and Asparagine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Ser1027Asn occurs at a position that is well conserved through mammals and is located in the DNA binding domain (Narod 2004). 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 BRCA1 Ser1027Asn is pathogenic or benign. We consider it to be a variant of uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111995 SCV000144628 uncertain significance Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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