NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515168.5
Allele description [Variation Report for NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)]
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
Condition(s)
- Name:
- Mismatch repair cancer syndrome 1 (MMRCS1)
- Synonyms:
- BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; CHILDHOOD CANCER SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010159; MedGen: C5399763; Orphanet: 252202; OMIM: 276300
Assertion and evidence details
Last Updated: Sep 8, 2024