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NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) AND Chordoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 22, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002266910.8

Allele description [Variation Report for NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)]

NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
HGVS:
  • NC_000013.11:g.32370420C>T
  • NG_012772.3:g.59941C>T
  • NM_000059.4:c.8350C>TMANE SELECT
  • NP_000050.2:p.Arg2784Trp
  • NP_000050.3:p.Arg2784Trp
  • LRG_293t1:c.8350C>T
  • LRG_293:g.59941C>T
  • LRG_293p1:p.Arg2784Trp
  • NC_000013.10:g.32944557C>T
  • NM_000059.3:c.8350C>T
  • U43746.1:n.8578C>T
  • p.Arg2784Trp
  • p.R2784W
Nucleotide change:
8578C>T
Protein change:
R2784W
Links:
dbSNP: rs80359075
NCBI 1000 Genomes Browser:
rs80359075
Molecular consequence:
  • NM_000059.4:c.8350C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chordoma
Identifiers:
MONDO: MONDO:0008978; MedGen: C0008487; Orphanet: 178; Human Phenotype Ontology: HP:0010762

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002549699Integrative Tumor Epidemiology Branch, National Institutes of Health
no assertion criteria provided
Uncertain significance
(Mar 22, 2021) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeangermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Integrative Tumor Epidemiology Branch, National Institutes of Health, SCV002549699.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearchnot provided

Description

Reduced ES cell viability and drug hypersensitivity (severe impact on BRCA2 function) PMID: 33293522

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024