NM_000465.4(BARD1):c.978T>A (p.Asn326Lys) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 9, 2017
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:: RCV000508087.4

Allele description [Variation Report for NM_000465.4(BARD1):c.978T>A (p.Asn326Lys)]

NM_000465.4(BARD1):c.978T>A (p.Asn326Lys)

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.978T>A (p.Asn326Lys)

HGVS:

NC_000002.12:g.214780896A>T
NG_012047.3:g.33816T>A
NM_000465.4:c.978T>AMANE SELECT
NM_001282543.2:c.921T>A
NM_001282545.2:c.215+16165T>A
NM_001282548.2:c.159-28341T>A
NM_001282549.2:c.364+11401T>A
NP_000456.2:p.Asn326Lys
NP_001269472.1:p.Asn307Lys
LRG_297t1:c.978T>A
LRG_297:g.33816T>A
LRG_297p1:p.Asn326Lys
NC_000002.11:g.215645620A>T
NG_012047.2:g.33809T>A
NM_000465.2:c.978T>A
NM_000465.3:c.978T>A
NR_104212.2:n.943T>A
NR_104215.2:n.886T>A

Protein change:

N307K

Links:

dbSNP: rs1553622318

NCBI 1000 Genomes Browser:

rs1553622318

Molecular consequence:

NM_001282545.2:c.215+16165T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.159-28341T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11401T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.978T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.921T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.943T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.886T>A - 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
SCV000600210	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Apr 14, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000920370	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000600210

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Apr 14, 2017)

germline

clinical testing

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

SCV000920370

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 9, 2017)

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600210.2

#	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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000920370.1

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

Description

Variant summary: The BARD1 c.978T>A (p.Asn326Lys) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 245918 control chromosomes. One clinical diagnostic laboratory classified this variant as one of uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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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