NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Uncertain significance(1); Likely benign(1) (Last evaluated: Jan 31, 2020)
Review status:1 star out of maximum of 4 stars
criteria provided, conflicting interpretations

Help

Based on:: 2 submissions [Details]
Record status:: current
Accession:: RCV000502553.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)]

NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

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.6423T>G (p.Gly2141=)

HGVS:

NC_000013.11:g.32340778T>G
NG_012772.3:g.30299T>G
NM_000059.4:c.6423T>GMANE SELECT
NP_000050.2:p.Gly2141=
NP_000050.3:p.Gly2141=
LRG_293t1:c.6423T>G
LRG_293:g.30299T>G
LRG_293p1:p.Gly2141=
NC_000013.10:g.32914915T>G
NM_000059.3:c.6423T>G

Links:

dbSNP: rs780721021

NCBI 1000 Genomes Browser:

rs780721021

Molecular consequence:

NM_000059.4:c.6423T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000593751	Genetic Services Laboratory,University of Chicago	criteria provided, single submitter ACMG Guidelines, 2015	Uncertain significance (Oct 23, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001361754	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter LabCorp Variant Classification Summary - May 2015	Likely benign (Jan 31, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000593751

Genetic Services Laboratory,University of Chicago

criteria provided, single submitter

ACMG Guidelines, 2015

Uncertain significance
(Oct 23, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001361754

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

LabCorp Variant Classification Summary - May 2015

Likely benign
(Jan 31, 2020)

germline

clinical testing

Citation Link

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000593751.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361754.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2022

ClinVar

Relating variation to medicine