ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1330A>C (p.Asn444His)

dbSNP: rs876660409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214764 SCV000277812 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-07 criteria provided, single submitter clinical testing The p.N444H variant (also known as c.1330A>C and 1558A>C), located in coding exon 9 of the BRCA2 gene, results from an A to C substitution at nucleotide position 1330. The asparagine at codon 444 is replaced by histidine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6501 samples (13002 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. 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 p.N444H remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000214764 SCV003850008 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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