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NM_000059.4(BRCA2):c.632-3C>G AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 28, 2023
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:
RCV000766853.22

Allele description [Variation Report for NM_000059.4(BRCA2):c.632-3C>G]

NM_000059.4(BRCA2):c.632-3C>G

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.632-3C>G
HGVS:
  • NC_000013.11:g.32329440C>G
  • NG_012772.3:g.18961C>G
  • NM_000059.4:c.632-3C>GMANE SELECT
  • LRG_293t1:c.632-3C>G
  • LRG_293:g.18961C>G
  • NC_000013.10:g.32903577C>G
  • NM_000059.3:c.632-3C>G
Nucleotide change:
IVS7-3C>G
Links:
dbSNP: rs568027879
NCBI 1000 Genomes Browser:
rs568027879
Molecular consequence:
  • NM_000059.4:c.632-3C>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000568450GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jul 28, 2023) 		germlineclinical testing

Citation Link,

SCV002563157CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jul 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000568450.5

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

Description

Non-canonical splice site variant demonstrated to result in loss-of-function (Houdayer et al., 2012; Fraile-Bethencourt et al., 2019); Multifactorial likelihood analysis suggests this variant is pathogenic (Parsons et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 860-3C>G; This variant is associated with the following publications: (PMID: 26913838, 22505045, 29750258, 25416802, 32123317, 33466630, 30883759, 33646313, 25381700, 31131967)

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

From CeGaT Center for Human Genetics Tuebingen, SCV002563157.14

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

BRCA2: PVS1, PM2, PS3:Supporting

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

Last Updated: Sep 16, 2024