NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000775953.11
Allele description [Variation Report for NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)]
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
membrane-associated phosphatidylinositol transfer protein 2 isoform 4 [Homo sapi...
membrane-associated phosphatidylinositol transfer protein 2 isoform 4 [Homo sapiens]gi|1862717719|ref|NP_001371590.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024