NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 4, 2021
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:: RCV001731379.2

Allele description [Variation Report for NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)]

NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)

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.54C>G (p.Asn18Lys)

Other names:

p.N18K:AAC>AAG

HGVS:

NC_000002.12:g.214809516G>C
NG_012047.3:g.5196C>G
NM_000465.4:c.54C>GMANE SELECT
NM_001282543.2:c.54C>G
NM_001282545.2:c.54C>G
NM_001282548.2:c.54C>G
NM_001282549.2:c.54C>G
NP_000456.2:p.Asn18Lys
NP_001269472.1:p.Asn18Lys
NP_001269474.1:p.Asn18Lys
NP_001269477.1:p.Asn18Lys
NP_001269478.1:p.Asn18Lys
LRG_297t1:c.54C>G
LRG_297:g.5196C>G
LRG_297p1:p.Asn18Lys
NC_000002.11:g.215674240G>C
NG_012047.2:g.5189C>G
NM_000465.2:c.54C>G
NM_000465.3:c.54C>G
NR_104212.2:n.168C>G
NR_104215.2:n.168C>G
NR_104216.2:n.168C>G
p.N18K

Protein change:

N18K

Links:

dbSNP: rs587780032

NCBI 1000 Genomes Browser:

rs587780032

Molecular consequence:

NM_000465.4:c.54C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.54C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.54C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.54C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.54C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.168C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.168C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.168C>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
SCV001983475	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 4, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001983475

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 4, 2021)

germline

clinical testing

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

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

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.

Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, et al.

Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.

PubMed [citation]

PMID:: 31036035
PMCID:: PMC6489184

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001983475.1

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

Description

Variant summary: BARD1 c.54C>G (p.Asn18Lys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.4e-05 in 214678 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.54C>G in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Seven 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: Nov 3, 2024

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