NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002478738.1
Allele description [Variation Report for NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)]
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
Condition(s)
- Name:
- Familial cancer of breast
- Synonyms:
- Breast cancer, familial; Hereditary breast cancer
- Identifiers:
- MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
- Name:
- Ataxia-telangiectasia syndrome (AT)
- Synonyms:
- Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900
Assertion and evidence details
Last Updated: Oct 13, 2024