NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 22, 2018
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:: RCV000212113.7

Allele description [Variation Report for NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)]

NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)

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.353A>G (p.Asn118Ser)

Other names:

p.N118S:AAT>AGT

HGVS:

NC_000002.12:g.214792308T>C
NG_012047.3:g.22404A>G
NM_000465.4:c.353A>GMANE SELECT
NM_001282543.2:c.296A>G
NM_001282545.2:c.215+4753A>G
NM_001282548.2:c.158+17104A>G
NM_001282549.2:c.353A>G
NP_000456.2:p.Asn118Ser
NP_001269472.1:p.Asn99Ser
NP_001269478.1:p.Asn118Ser
LRG_297t1:c.353A>G
LRG_297:g.22404A>G
LRG_297p1:p.Asn118Ser
NC_000002.11:g.215657032T>C
NG_012047.2:g.22397A>G
NM_000465.2:c.353A>G
NM_000465.3:c.353A>G
NR_104216.2:n.467A>G
p.N118S

Protein change:

N118S

Links:

dbSNP: rs142864491

NCBI 1000 Genomes Browser:

rs142864491

Molecular consequence:

NM_001282545.2:c.215+4753A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+17104A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.353A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.353A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104216.2:n.467A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000918619	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Oct 22, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000918619

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Oct 22, 2018)

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918619.1

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

Description

Variant summary: BARD1 c.353A>G (p.Asn118Ser) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.7e-05 in 276666 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BARD1 causing Hereditary Breast and Ovarian Cancer (4.7e-05 vs 0.00025), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.353A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrences with other pathogenic variant(s) have been reported in our internal testing experience (APC c.487C>T, p.Gln163X), providing supporting evidence for a benign role. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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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