NM_000465.4(BARD1):c.390_391del (p.Ser131fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 19, 2022
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:: RCV002226339.1

Allele description [Variation Report for NM_000465.4(BARD1):c.390_391del (p.Ser131fs)]

NM_000465.4(BARD1):c.390_391del (p.Ser131fs)

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.390_391del (p.Ser131fs)

Other names:

NP_000456.2:p.Ser131PhefsTer3

HGVS:

NC_000002.12:g.214781485_214781486del
NG_012047.3:g.33228_33229del
NM_000465.4:c.390_391delMANE SELECT
NM_001282543.2:c.333_334del
NM_001282545.2:c.215+15577_215+15578del
NM_001282548.2:c.158+27928_158+27929del
NM_001282549.2:c.364+10813_364+10814del
NP_000456.2:p.Ser131fs
NP_001269472.1:p.Ser112fs
LRG_297t1:c.390_391del
LRG_297:g.33228_33229del
LRG_297p1:p.Ser131fs
NC_000002.11:g.215646209_215646210del
NR_104212.2:n.355_356del
NR_104215.2:n.298_299del

Protein change:

S112fs

Links:

dbSNP: rs2106112637

NCBI 1000 Genomes Browser:

rs2106112637

Molecular consequence:

NM_000465.4:c.390_391del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282543.2:c.333_334del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282545.2:c.215+15577_215+15578del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+27928_158+27929del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10813_364+10814del - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.355_356del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.298_299del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002505136	National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 19, 2022)	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

SCV002505136

National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 19, 2022)

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	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002505136.1

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

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine