NM_000059.4(BRCA2):c.581G>C (p.Trp194Ser) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000471135.8
Allele description [Variation Report for NM_000059.4(BRCA2):c.581G>C (p.Trp194Ser)]
NM_000059.4(BRCA2):c.581G>C (p.Trp194Ser)
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
-
TRAPPC10 AND (alive[prop]) (1468)
Gene
-
UGT2B10 AND (alive[prop]) (35)
Gene
-
LIN7B lin-7 homolog B, crumbs cell polarity complex component [Homo sapiens]
LIN7B lin-7 homolog B, crumbs cell polarity complex component [Homo sapiens]Gene ID:64130Gene
-
64130[uid] AND (alive[prop]) (1)
Gene
-
POGLUT2 protein O-glucosyltransferase 2 [Homo sapiens]
POGLUT2 protein O-glucosyltransferase 2 [Homo sapiens]Gene ID:79070Gene
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024