NM_000059.4(BRCA2):c.5912C>T (p.Ser1971Phe) 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:
- RCV002352449.6
Allele description [Variation Report for NM_000059.4(BRCA2):c.5912C>T (p.Ser1971Phe)]
NM_000059.4(BRCA2):c.5912C>T (p.Ser1971Phe)
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
-
ubiquitin thioesterase OTU1 isoform 1 [Homo sapiens]
ubiquitin thioesterase OTU1 isoform 1 [Homo sapiens]gi|62751964|ref|NP_061036.3|Protein
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Last Updated: Sep 29, 2024