ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4410_4412delinsCAT (p.Arg1471Ile) (rs786202031)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164634 SCV000215298 uncertain significance Hereditary cancer-predisposing syndrome 2014-05-15 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000255472 SCV000322522 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4410_4412delAAGinsCAT at the cDNA level, p.Arg1471Ile (R1471I) at the protein level. The surounding sequence is ACAT[delAAG][insCAT]AAAG. This in frame deletion and insertion, also known as 4638_4640delAAGinsCAT using alternate nomenclature, results in the missense change of an Arginine to an Isoleucine (AAG>ATA). This variant was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Arginine and Isoleucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Arg1471Ile occurs at a position that is not conserved and is located in the POLH and RAD51 binding domains (Roy 2012). In silico analyses are inconsistent regarding the effect this variant may have on protein structure or function. Based on currently available information, it is unclear whether BRCA1 Arg1471Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Counsyl RCV000409933 SCV000487775 uncertain significance Breast-ovarian cancer, familial 2 2015-11-21 criteria provided, single submitter clinical testing

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