NM_000465.4(BARD1):c.465A>G (p.Arg155=) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 22, 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:: RCV001543125.3

Allele description [Variation Report for NM_000465.4(BARD1):c.465A>G (p.Arg155=)]

NM_000465.4(BARD1):c.465A>G (p.Arg155=)

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.465A>G (p.Arg155=)

Other names:

p.R155R:AGA>AGG

HGVS:

NC_000002.12:g.214781409T>C
NG_012047.3:g.33303A>G
NM_000465.4:c.465A>GMANE SELECT
NM_001282543.2:c.408A>G
NM_001282545.2:c.215+15652A>G
NM_001282548.2:c.158+28003A>G
NM_001282549.2:c.364+10888A>G
NP_000456.2:p.Arg155=
NP_001269472.1:p.Arg136=
LRG_297t1:c.465A>G
LRG_297:g.33303A>G
LRG_297p1:p.Arg155=
NC_000002.11:g.215646133T>C
NG_012047.2:g.33296A>G
NM_000465.2:c.465A>G
NM_000465.3:c.465A>G
NR_104212.2:n.430A>G
NR_104215.2:n.373A>G
p.R155R

Links:

dbSNP: rs730881413

NCBI 1000 Genomes Browser:

rs730881413

Molecular consequence:

NM_001282545.2:c.215+15652A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28003A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10888A>G - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.430A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.373A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000465.4:c.465A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001282543.2:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001761644	St. Jude Molecular Pathology, St. Jude Children's Research Hospital	criteria provided, single submitter (St. Jude Assertion Criteria 2020)	Uncertain significance (Jul 22, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001761644

St. Jude Molecular Pathology, St. Jude Children's Research Hospital

criteria provided, single submitter

(St. Jude Assertion Criteria 2020)

Uncertain significance
(Jul 22, 2021)

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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV001761644.1

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

Description

The BARD1 c.465A>G (p.Arg155=) synonymous change has a maximum subpopulation frequency of 0.0018% in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/variant/2-215646133-T-C). Algorithms that predict the impact of sequence changes on splicing indicate that this change may create or activate a cryptic donor splice site, but RNA studies indicate no splicing effect (internal data). This variant is absent in a database of women older than 70 years of age who have never had cancer (https://whi.color.com/). To our knowledge, this variant has not been reported in individuals with HBOC. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting.

#	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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