NM_000465.4(BARD1):c.776A>G (p.Asp259Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 2017
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:: RCV000781933.2

Allele description [Variation Report for NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)]

NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)

Other names:

p.D259G:GAC>GGC

HGVS:

NC_000002.12:g.214781098T>C
NG_012047.3:g.33614A>G
NM_000465.4:c.776A>GMANE SELECT
NM_001282543.2:c.719A>G
NM_001282545.2:c.215+15963A>G
NM_001282548.2:c.158+28314A>G
NM_001282549.2:c.364+11199A>G
NP_000456.2:p.Asp259Gly
NP_001269472.1:p.Asp240Gly
LRG_297t1:c.776A>G
LRG_297:g.33614A>G
LRG_297p1:p.Asp259Gly
NC_000002.11:g.215645822T>C
NG_012047.2:g.33607A>G
NM_000465.2:c.776A>G
NM_000465.3:c.776A>G
NR_104212.2:n.741A>G
NR_104215.2:n.684A>G
p.D259G

Protein change:

D240G

Links:

dbSNP: rs587780036

NCBI 1000 Genomes Browser:

rs587780036

Molecular consequence:

NM_001282545.2:c.215+15963A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28314A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11199A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.776A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.719A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.741A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.684A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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EC2CAA21CC10.b1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA clone xthr21F19 3', mRNA sequence
gi|45896364|gnl|dbEST|22216857|gb|C 68.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000920364	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 7, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25186627, 25318351 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000920364

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 7, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]

PMID:: 25186627

Use of panel tests in place of single gene tests in the cancer genetics clinic.

Yorczyk A, Robinson LS, Ross TS.

Clin Genet. 2015 Sep;88(3):278-82. doi: 10.1111/cge.12488. Epub 2014 Oct 16.

PubMed [citation]

PMID:: 25318351

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000920364.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: The BARD1 c.776A>G (p.Asp259Gly) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 115378 control chromosomes from ExAC. This variant has been reported in one BrC patient without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as VUS.

#	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: Sep 29, 2024

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