NM_000465.4(BARD1):c.755del (p.Pro252fs) AND Familial cancer of breast

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 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:: RCV000533603.5

Allele description

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:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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
SCV000633061	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 5, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20077502, 21344236, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000633061

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 5, 2022)

germline

clinical testing

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

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

Citations

PubMed

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

De Brakeleer S, De Grève J, Loris R, Janin N, Lissens W, Sermijn E, Teugels E.

Hum Mutat. 2010 Mar;31(3):E1175-85. doi: 10.1002/humu.21200.

PubMed [citation]

PMID:: 20077502

Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

Ratajska M, Antoszewska E, Piskorz A, Brozek I, Borg Å, Kusmierek H, Biernat W, Limon J.

Breast Cancer Res Treat. 2012 Jan;131(1):89-97. doi: 10.1007/s10549-011-1403-8. Epub 2011 Feb 23.

PubMed [citation]

PMID:: 21344236

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000633061.4

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 460763). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro252Leufs*3) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236).

#	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 8, 2024

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