NM_000059.4(BRCA2):c.8579del (p.Lys2860fs) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000496717.16
Allele description [Variation Report for NM_000059.4(BRCA2):c.8579del (p.Lys2860fs)]
NM_000059.4(BRCA2):c.8579del (p.Lys2860fs)
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
-
Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA
Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNAgi|66912183|ref|NM_003873.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024