NM_000465.4(BARD1):c.377_378delinsGA (p.Asp126Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 2020
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:: RCV002351078.2

Allele description [Variation Report for NM_000465.4(BARD1):c.377_378delinsGA (p.Asp126Gly)]

NM_000465.4(BARD1):c.377_378delinsGA (p.Asp126Gly)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.377_378delinsGA (p.Asp126Gly)

HGVS:

NC_000002.12:g.214781496_214781497delinsTC
NG_012047.3:g.33215_33216delinsGA
NM_000465.4:c.377_378delinsGAMANE SELECT
NM_001282543.2:c.320_321delinsGA
NM_001282545.2:c.215+15564_215+15565delinsGA
NM_001282548.2:c.158+27915_158+27916delinsGA
NM_001282549.2:c.364+10800_364+10801delinsGA
NP_000456.2:p.Asp126Gly
NP_001269472.1:p.Asp107Gly
LRG_297t1:c.377_378delinsGA
LRG_297:g.33215_33216delinsGA
LRG_297p1:p.Asp126Gly
NC_000002.11:g.215646220_215646221delinsTC
NM_000465.2:c.377_378delATinsGA
NR_104212.2:n.342_343delinsGA
NR_104215.2:n.285_286delinsGA

Protein change:

D107G

Molecular consequence:

NM_001282545.2:c.215+15564_215+15565delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+27915_158+27916delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10800_364+10801delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.377_378delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.320_321delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.342_343delinsGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.285_286delinsGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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TMEM255B transmembrane protein 255B [Homo sapiens]
TMEM255B transmembrane protein 255B [Homo sapiens]
Gene ID:348013

Gene
Gene Links for GEO Profiles (Select 131519915) (1)
Gene
CUL4A cullin 4A [Homo sapiens]
CUL4A cullin 4A [Homo sapiens]
Gene ID:8451

Gene
Gene Links for GEO Profiles (Select 131553464) (1)
Gene
Related DataSets for GEO Profiles (Select 131520608) (1)
GEO DataSets

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002623222	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 28, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002623222

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 28, 2020)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002623222.2

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

Description

The c.377_378delATinsGA variant, located in coding exon 4 of the BARD1 gene, results from an in-frame deletion of AT and insertion of GA at nucleotide positions 377 to 378. This results in the substitution of the aspartic acid residue for a glycine residue at codon 126, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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