NM_000059.4(BRCA2):c.542C>T (p.Ser181Phe) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000637616.7
Allele description [Variation Report for NM_000059.4(BRCA2):c.542C>T (p.Ser181Phe)]
NM_000059.4(BRCA2):c.542C>T (p.Ser181Phe)
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
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PREDICTED: Phascolarctos cinereus UTP23, small subunit processome component (UTP...
PREDICTED: Phascolarctos cinereus UTP23, small subunit processome component (UTP23), mRNAgi|1190435337|ref|XM_020965436.1|Nucleotide
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Partial duplication of the proximal phalanx of the 3rd finger
Partial duplication of the proximal phalanx of the 3rd fingerMedGen
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Complete duplication of the middle phalanges of the hand
Complete duplication of the middle phalanges of the handMedGen
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Complete duplication of the middle phalanx of the 4th finger
Complete duplication of the middle phalanx of the 4th fingerMedGen
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Complete duplication of the distal phalanx of the 2nd finger
Complete duplication of the distal phalanx of the 2nd fingerMedGen
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Last Updated: Sep 29, 2024