ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn) (rs431825394)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130827 SCV000185724 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-28 criteria provided, single submitter clinical testing The p.K970N variant (also known as c.2910A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 2910. The lysine at codon 970 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000656787 SCV000210138 uncertain significance not provided 2014-09-10 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2910A>C at the cDNA level, p.Lys970Asn (K970N) at the protein level, and results in the change of a Lysine to an Asparagine (AAA>AAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Lys970Asn 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 Lysine and Asparagine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Lys970Asn occurs at a position that is variable across species and is located within the DNA-binding domain (Narod 2004). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA1 Lys970Asn is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl RCV000083031 SCV000488070 uncertain significance Breast-ovarian cancer, familial 1 2015-12-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000159973 SCV000600305 uncertain significance not specified 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV001087157 SCV000759354 likely benign Hereditary breast and ovarian cancer syndrome 2020-07-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000130827 SCV000909330 likely benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083031 SCV000115105 benign Breast-ovarian cancer, familial 1 2012-01-25 no assertion criteria provided clinical testing

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