NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002225403.3
Allele description [Variation Report for NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)]
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
-
Hypoplastic labia minora
Hypoplastic labia minoraMedGen
-
Aggressive Osteoblastoma
Aggressive OsteoblastomaMedGen
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See more...Assertion and evidence details
Last Updated: May 19, 2024