NM_000465.4(BARD1):c.640dup (p.Ile214fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 15, 2023
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:: RCV003501137.2

Allele description [Variation Report for NM_000465.4(BARD1):c.640dup (p.Ile214fs)]

NM_000465.4(BARD1):c.640dup (p.Ile214fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.640dup (p.Ile214fs)

HGVS:

NC_000002.12:g.214781236dup
NG_012047.3:g.33478dup
NM_000465.4:c.640dupMANE SELECT
NM_001282543.2:c.583dup
NM_001282545.2:c.215+15827dup
NM_001282548.2:c.158+28178dup
NM_001282549.2:c.364+11063dup
NP_000456.2:p.Ile214fs
NP_001269472.1:p.Ile195fs
LRG_297t1:c.640dup
LRG_297:g.33478dup
LRG_297p1:p.Ile214fs
NC_000002.11:g.215645957_215645958insT
NC_000002.11:g.215645960dup
NR_104212.2:n.605dup
NR_104215.2:n.548dup

Protein change:

I195fs

Molecular consequence:

NM_000465.4:c.640dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282543.2:c.583dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282545.2:c.215+15827dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28178dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11063dup - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.605dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.548dup - 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

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Platygastridae sp. BIOUG21209-D10 cytochrome oxidase subunit 1 (COI) gene, parti...
Platygastridae sp. BIOUG21209-D10 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|1576839256|gnl|uoguelph|CNTIH161 COI-5P|gb|MG501370.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004365320	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 15, 2023)	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

SCV004365320

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 15, 2023)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004365320.1

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

Description

This sequence change creates a premature translational stop signal (p.Ile214Asnfs*15) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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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