NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Nov 19, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV000131169.15

Allele description [Variation Report for NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)]

NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)

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.568G>A (p.Asp190Asn)

Other names:

p.D190N:GAT>AAT

HGVS:

NC_000002.12:g.214781306C>T
NG_012047.3:g.33406G>A
NM_000465.4:c.568G>AMANE SELECT
NM_001282543.2:c.511G>A
NM_001282545.2:c.215+15755G>A
NM_001282548.2:c.158+28106G>A
NM_001282549.2:c.364+10991G>A
NP_000456.2:p.Asp190Asn
NP_001269472.1:p.Asp171Asn
LRG_297t1:c.568G>A
LRG_297:g.33406G>A
LRG_297p1:p.Asp190Asn
NC_000002.11:g.215646030C>T
NG_012047.2:g.33399G>A
NM_000465.2:c.568G>A
NM_000465.3:c.568G>A
NR_104212.2:n.533G>A
NR_104215.2:n.476G>A
p.D190N

Protein change:

D171N

Links:

dbSNP: rs369561166

NCBI 1000 Genomes Browser:

rs369561166

Molecular consequence:

NM_001282545.2:c.215+15755G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28106G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10991G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.533G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.476G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000186115	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Sep 28, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25186627, 26315354, 30925164 Citation Link,
SCV000910683	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Mar 3, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002529622	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Nov 19, 2021)	germline	curation	PubMed (2) [See all records that cite these PMIDs] 33471991, 30925164 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000186115

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Sep 28, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000910683

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Mar 3, 2016)

germline

clinical testing

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

SCV002529622

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Nov 19, 2021)

germline

curation

PubMed (2)
[See all records that cite these PMIDs]

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, curation

Citations

PubMed

Nothing to display

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000186115.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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 Color Diagnostics, LLC DBA Color Health, SCV000910683.1

#	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 Sema4, Sema4, SCV002529622.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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 18, 2024

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