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NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000256059.31

Allele description [Variation Report for NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)]

NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)

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.7007G>C (p.Arg2336Pro)
HGVS:
  • NC_000013.11:g.32346896G>C
  • NG_012772.3:g.36417G>C
  • NM_000059.4:c.7007G>CMANE SELECT
  • NP_000050.2:p.Arg2336Pro
  • NP_000050.3:p.Arg2336Pro
  • LRG_293t1:c.7007G>C
  • LRG_293:g.36417G>C
  • LRG_293p1:p.Arg2336Pro
  • NC_000013.10:g.32921033G>C
  • NM_000059.3:c.7007G>C
  • U43746.1:n.7235G>C
Nucleotide change:
7235G>C
Protein change:
R2336P
Links:
dbSNP: rs28897743
NCBI 1000 Genomes Browser:
rs28897743
Molecular consequence:
  • NM_000059.4:c.7007G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000321480GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 30, 2024) 		germlineclinical testing

Citation Link,

SCV001502169CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jun 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000321480.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports a deleterious effect on splicing; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 7235G>C; This variant is associated with the following publications: (PMID: 29560538, 9150172, 22762150, 26913838, 21523855, 20960228, 26187060, 25256924, 22399190, 21063910, 24312913, 21548014, 28008555, 29086229, 30014164, 21465317, 28973083, 32444794, 30787465, 32341426, 32438681, 34687993, 22505045, 31131967)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001502169.23

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

BRCA2: PM1, PM2, PM5, PS3:Moderate, PS4:Moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 3, 2024