NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Dec 28, 2023
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:: RCV000482172.5

Allele description [Variation Report for NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)]

NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)

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.55G>T (p.Glu19Ter)

HGVS:

NC_000002.12:g.214809515C>A
NG_012047.3:g.5197G>T
NM_000465.4:c.55G>TMANE SELECT
NM_001282543.2:c.55G>T
NM_001282545.2:c.55G>T
NM_001282548.2:c.55G>T
NM_001282549.2:c.55G>T
NP_000456.2:p.Glu19Ter
NP_001269472.1:p.Glu19Ter
NP_001269474.1:p.Glu19Ter
NP_001269477.1:p.Glu19Ter
NP_001269478.1:p.Glu19Ter
LRG_297t1:c.55G>T
LRG_297:g.5197G>T
LRG_297p1:p.Glu19Ter
NC_000002.11:g.215674239C>A
NG_012047.2:g.5190G>T
NM_000465.2:c.55G>T
NM_000465.3:c.55G>T
NR_104212.2:n.169G>T
NR_104215.2:n.169G>T
NR_104216.2:n.169G>T

Protein change:

E19*

Links:

dbSNP: rs752514155

NCBI 1000 Genomes Browser:

rs752514155

Molecular consequence:

NR_104212.2:n.169G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.169G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.169G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000465.4:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001282543.2:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001282545.2:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001282548.2:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001282549.2:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000567257	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 28, 2023)	germline	clinical testing	Citation Link,
SCV000887597	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Nov 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567257

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 28, 2023)

germline

clinical testing

Citation Link,

SCV000887597

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Nov 27, 2017)

germline

clinical testing

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

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

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 GeneDx, SCV000567257.5

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32679805)

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000887597.2

#	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

Last Updated: Sep 29, 2024

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