NM_000465.4(BARD1):c.79G>C (p.Glu27Gln) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 10, 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:: RCV000585925.3

Allele description [Variation Report for NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)]

NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)

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.79G>C (p.Glu27Gln)

Other names:

p.E27Q:GAA>CAA

HGVS:

NC_000002.12:g.214809491C>G
NG_012047.3:g.5221G>C
NM_000465.4:c.79G>CMANE SELECT
NM_001282543.2:c.79G>C
NM_001282545.2:c.79G>C
NM_001282548.2:c.79G>C
NM_001282549.2:c.79G>C
NP_000456.2:p.Glu27Gln
NP_001269472.1:p.Glu27Gln
NP_001269474.1:p.Glu27Gln
NP_001269477.1:p.Glu27Gln
NP_001269478.1:p.Glu27Gln
LRG_297t1:c.79G>C
LRG_297:g.5221G>C
LRG_297p1:p.Glu27Gln
NC_000002.11:g.215674215C>G
NG_012047.2:g.5214G>C
NM_000465.2:c.79G>C
NM_000465.3:c.79G>C
NR_104212.2:n.193G>C
NR_104215.2:n.193G>C
NR_104216.2:n.193G>C
p.E27Q

Protein change:

E27Q

Links:

dbSNP: rs587780037

NCBI 1000 Genomes Browser:

rs587780037

Molecular consequence:

NM_000465.4:c.79G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.79G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.79G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.79G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.79G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.193G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.193G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.193G>C - 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
SCV000149553	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 10, 2024)	germline	clinical testing	Citation Link,
SCV000696791	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 13, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149553

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 10, 2024)

germline

clinical testing

Citation Link,

SCV000696791

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 13, 2015)

germline

clinical testing

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

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Lee C, Banerjee T, Gillespie J, Ceravolo A, Parvinsmith MR, Starita LM, Fields S, Toland AE, Parvin JD.

Hum Mutat. 2015 Dec;36(12):1205-14. doi: 10.1002/humu.22902. Epub 2015 Sep 22.

PubMed [citation]

PMID:: 26350354
PMCID:: PMC6005381

Details of each submission

From GeneDx, SCV000149553.16

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

Description

Published functional studies demonstrate no damaging effect: homology-directed repair and protein expression similar to wildtype (PMID: 26350354); Observed in an individual with pediatric-onset B-cell acute lymphoblastic leukemia (PMID: 36187937); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18480049, 26350354, 36187937, 33471991)

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696791.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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