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

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 9, 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:: RCV000212124.10

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:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000149552	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 9, 2024)	germline	clinical testing	Citation Link,
SCV001469364	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Oct 21, 2019)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25318351, 25186627, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149552

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 9, 2024)

germline

clinical testing

Citation Link,

SCV001469364

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Oct 21, 2019)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

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

See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000149552.16

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual undergoing hereditary cancer testing (PMID: 25318351); This variant is associated with the following publications: (PMID: 25318351)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469364.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Sep 29, 2024

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