NM_000059.4(BRCA2):c.3502A>G (p.Met1168Val) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Mar 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002459155.6
Allele description [Variation Report for NM_000059.4(BRCA2):c.3502A>G (p.Met1168Val)]
NM_000059.4(BRCA2):c.3502A>G (p.Met1168Val)
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
-
Stage IVA Rectal Cancer AJCC v7
Stage IVA Rectal Cancer AJCC v7MedGen
-
TMEM132A protein, partial [Homo sapiens]
TMEM132A protein, partial [Homo sapiens]gi|29791402|gb|AAH32059.1|Protein
-
hypothetical protein, partial [Homo sapiens]
hypothetical protein, partial [Homo sapiens]gi|52545669|emb|CAH10668.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024