NM_000059.4(BRCA2):c.470_474del (p.Lys157fs) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Dec 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000496831.15
Allele description [Variation Report for NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)]
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs)
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
-
PREDICTED: Vitis vinifera homeobox protein knotted-1-like 2 (LOC100255834), mRNA
PREDICTED: Vitis vinifera homeobox protein knotted-1-like 2 (LOC100255834), mRNAgi|2581571324|ref|XM_002285485.5|Nucleotide
-
RecName: Full=Rhomboid-related protein 2; Short=RRP2; Contains: RecName: Full=Rh...
RecName: Full=Rhomboid-related protein 2; Short=RRP2; Contains: RecName: Full=Rhomboid-related protein 2, N-terminal fragment; Short=NTF; Contains: RecName: Full=Rhomboid-related protein 2, C-terminal fragment; Short=CTFgi|334350829|sp|A2AGA4.1|RHBL2_MOUSProtein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024