rs80358439[Variant ID] - ClinVar

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4811861.	NM_000059.3(BRCA2):c.1550A>T (p.Asn517Ile) GRCh37: Chr13:32907165 GRCh38: Chr13:32333028	BRCA2	Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 21, 2017)	criteria provided, single submitter
Select item 377452.	NM_000059.3(BRCA2):c.1550A>G (p.Asn517Ser) GRCh37: Chr13:32907165 GRCh38: Chr13:32333028	BRCA2	Breast-ovarian cancer, familial 2, Hereditary breast and ovarian cancer syndrome, not provided, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Jul 2, 2018)	criteria provided, conflicting interpretations

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