NM_000059.4(BRCA2):c.9718G>C (p.Val3240Leu) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001299028.8
Allele description [Variation Report for NM_000059.4(BRCA2):c.9718G>C (p.Val3240Leu)]
NM_000059.4(BRCA2):c.9718G>C (p.Val3240Leu)
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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TLR8b2 protein [Coregonus maraena]
TLR8b2 protein [Coregonus maraena]gi|718462420|emb|CEF90223.1|Protein
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polymerase PB2 [Influenza A virus (A/environment/NY/98899-6/2001(H5N2))]
polymerase PB2 [Influenza A virus (A/environment/NY/98899-6/2001(H5N2))]gi|209164845|gb|ACI41037.1|Protein
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Rattus norvegicus general transcription factor IIIC subunit 1 (Gtf3c1), mRNA
Rattus norvegicus general transcription factor IIIC subunit 1 (Gtf3c1), mRNAgi|925114267|ref|NM_133541.2|Nucleotide
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Synthetic construct Homo sapiens clone IMAGE:100015157, MGC:180227 ankyrin repea...
Synthetic construct Homo sapiens clone IMAGE:100015157, MGC:180227 ankyrin repeat domain 17 (ANKRD17) mRNA, encodes complete proteingi|225356459|gb|BC146382.1|Nucleotide
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UI-CF-EC1-abn-i-19-0-UI.s1 UI-CF-EC1 Homo sapiens cDNA clone UI-CF-EC1-abn-i-19-...
UI-CF-EC1-abn-i-19-0-UI.s1 UI-CF-EC1 Homo sapiens cDNA clone UI-CF-EC1-abn-i-19-0-UI 3', mRNA sequencegi|19589251|gnl|dbEST|11789962|gb|B 64.1|Nucleotide
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Last Updated: Sep 1, 2024