rs80358439[Variant ID] - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 4811861.	NM_000059.4(BRCA2):c.1550A>T (p.Asn517Ile) GRCh37: Chr13:32907165 GRCh38: Chr13:32333028	BRCA2	N517I	Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 21, 2017)	criteria provided, single submitter	VCV000481186
Select item 377452.	NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) GRCh37: Chr13:32907165 GRCh38: Chr13:32333028	BRCA2	N517S	Hereditary cancer-predisposing syndrome, not specified, not provided, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2	Conflicting interpretations of pathogenicity (Nov 23, 2021)	criteria provided, conflicting interpretations	VCV000037745

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