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NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 19, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000985555.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)]

NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)

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.6025C>T (p.Gln2009Ter)
HGVS:
  • NC_000013.11:g.32340380C>T
  • NG_012772.3:g.29901C>T
  • NM_000059.4:c.6025C>TMANE SELECT
  • NP_000050.2:p.Gln2009Ter
  • NP_000050.3:p.Gln2009Ter
  • LRG_293t1:c.6025C>T
  • LRG_293:g.29901C>T
  • LRG_293p1:p.Gln2009Ter
  • NC_000013.10:g.32914517C>T
  • NM_000059.3:c.6025C>T
  • U43746.1:n.6253C>T
Protein change:
Q2009*
Links:
dbSNP: rs80358838
NCBI 1000 Genomes Browser:
rs80358838
Molecular consequence:
  • NM_000059.4:c.6025C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001133847Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Oct 19, 2018) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer.

Labidi-Galy SI, Olivier T, Rodrigues M, Ferraioli D, Derbel O, Bodmer A, Petignat P, Rak B, Chopin N, Tredan O, Heudel PE, Stuckelberger S, Meeus P, Meraldi P, Viassolo V, Ayme A, Chappuis PO, Stern MH, Houdayer C, Stoppa-Lyonnet D, Buisson A, Golmard L, et al.

Clin Cancer Res. 2018 Jan 15;24(2):326-333. doi: 10.1158/1078-0432.CCR-17-2136. Epub 2017 Oct 30.

PubMed [citation]
PMID:
29084914

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133847.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024