NM_000465.4(BARD1):c.755del (p.Pro252fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 13, 2017
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:: RCV000571564.4

Allele description [Variation Report for NM_000465.4(BARD1):c.755del (p.Pro252fs)]

NM_000465.4(BARD1):c.755del (p.Pro252fs)

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.755del (p.Pro252fs)

HGVS:

NC_000002.11:g.215645843del
NC_000002.12:g.214781120del
NG_012047.3:g.33593del
NM_000465.4:c.755delMANE SELECT
NM_001282543.2:c.698del
NM_001282545.2:c.215+15942del
NM_001282548.2:c.158+28293del
NM_001282549.2:c.364+11178del
NP_000456.2:p.Pro252fs
NP_001269472.1:p.Pro233fs
LRG_297t1:c.755del
LRG_297:g.33593del
LRG_297p1:p.Pro252fs
NC_000002.11:g.215645843del
NC_000002.11:g.215645843delG
NC_000002.11:g.215645844del
NG_012047.2:g.33586del
NM_000465.2:c.755delC
NM_000465.3:c.755delC
NR_104212.2:n.720del
NR_104215.2:n.663del

Protein change:

P233fs

Links:

dbSNP: rs1553622471

NCBI 1000 Genomes Browser:

rs1553622471

Molecular consequence:

NM_000465.4:c.755del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282543.2:c.698del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282545.2:c.215+15942del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28293del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11178del - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.720del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.663del - 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

Recent activity

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PREDICTED: Notechis scutatus sarcoglycan gamma (SGCG), transcript variant X1, mR...
PREDICTED: Notechis scutatus sarcoglycan gamma (SGCG), transcript variant X1, mRNA
gi|1487333926|ref|XM_026674987.1|

Nucleotide
MULTISPECIES: Mrp/NBP35 family ATP-binding protein [Bifidobacterium]
MULTISPECIES: Mrp/NBP35 family ATP-binding protein [Bifidobacterium]
gi|490328655|ref|WP_004218112.1|

Protein
Pathogen: clinical or host-associated sample from Pseudomonas aeruginosa
Pathogen: clinical or host-associated sample from Pseudomonas aeruginosa

biosample
Taxus wallichiana var. chinensis voucher GLM-2382 tRNA-Leu (trnL) gene and trnL-...
Taxus wallichiana var. chinensis voucher GLM-2382 tRNA-Leu (trnL) gene and trnL-trnF intergenic spacer, partial sequence; chloroplast
gi|158139179|gb|EU052214.1|

Nucleotide
mCG141035 [Mus musculus]
mCG141035 [Mus musculus]
gi|148668360|gb|EDL00686.1||gnl|WGS |mCP95726

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000668245	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jan 13, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000668245

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jan 13, 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

Details of each submission

From Ambry Genetics, SCV000668245.5

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

Description

The c.755delC pathogenic mutation, located in coding exon 4 of the BARD1 gene, results from a deletion of one nucleotide at nucleotide position 755, causing a translational frameshift with a predicted alternate stop codon (p.P252Lfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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