NM_004656.4(BAP1):c.1848G>A (p.Val616=) AND BAP1-related tumor predisposition syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002834216.3
Allele description [Variation Report for NM_004656.4(BAP1):c.1848G>A (p.Val616=)]
NM_004656.4(BAP1):c.1848G>A (p.Val616=)
Condition(s)
- Name:
- BAP1-related tumor predisposition syndrome (TPDS1)
- Synonyms:
- Tumor predisposition syndrome; Tumor susceptibility linked to germline BAP1 mutations; BAP1 tumor predisposition syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013692; MedGen: C3280492; Orphanet: 289539; OMIM: 614327
Assertion and evidence details
Last Updated: Sep 29, 2024