NM_000465.4(BARD1):c.1278_1279del (p.His426fs) AND Familial cancer of breast

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 27, 2019
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:: RCV001214785.7

Allele description [Variation Report for NM_000465.4(BARD1):c.1278_1279del (p.His426fs)]

NM_000465.4(BARD1):c.1278_1279del (p.His426fs)

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.1278_1279del (p.His426fs)

HGVS:

NC_000002.12:g.214780596_214780597del
NG_012047.3:g.34116_34117del
NM_000465.4:c.1278_1279delMANE SELECT
NM_001282543.2:c.1221_1222del
NM_001282545.2:c.215+16465_215+16466del
NM_001282548.2:c.159-28041_159-28040del
NM_001282549.2:c.364+11701_364+11702del
NP_000456.2:p.His426fs
NP_001269472.1:p.His407fs
LRG_297t1:c.1278_1279del
LRG_297:g.34116_34117del
LRG_297p1:p.His426fs
NC_000002.11:g.215645319_215645320del
NC_000002.11:g.215645320_215645321del
NG_012047.2:g.34109_34110del
NM_000465.3:c.1278_1279del
NR_104212.2:n.1243_1244del
NR_104215.2:n.1186_1187del

Protein change:

H407fs

Links:

dbSNP: rs1694939675

NCBI 1000 Genomes Browser:

rs1694939675

Molecular consequence:

NM_000465.4:c.1278_1279del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282543.2:c.1221_1222del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282545.2:c.215+16465_215+16466del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.159-28041_159-28040del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11701_364+11702del - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.1243_1244del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1186_1187del - 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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histone deacetylase 2 [Homo sapiens]
histone deacetylase 2 [Homo sapiens]
gi|4557641|ref|NP_001518.1|

Protein
Homo sapiens Ras association and DIL domains, mRNA (cDNA clone MGC:177052 IMAGE:...
Homo sapiens Ras association and DIL domains, mRNA (cDNA clone MGC:177052 IMAGE:9052035), complete cds
gi|219520330|gb|BC143526.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001386489	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 27, 2019)	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

SCV001386489

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 27, 2019)

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, SCV001386489.5

#	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. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant has not been reported in the literature in individuals with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His426Glnfs*12) in the BARD1 gene. It is expected to result in an absent or disrupted protein product.

#	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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