NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 21, 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:: RCV003365761.2

Allele description [Variation Report for NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)]

NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)

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.1838_1841dup (p.Gln615fs)

HGVS:

NC_000002.12:g.214745129_214745132dup
NG_012047.3:g.69580_69583dup
NM_000465.2:c.1838_1841dupCAGT
NM_000465.4:c.1838_1841dupMANE SELECT
NM_001282543.2:c.1781_1784dup
NM_001282545.2:c.485_488dup
NM_001282548.2:c.428_431dup
NM_001282549.2:c.365-14624_365-14621dup
NP_000456.2:p.Gln615fs
NP_001269472.1:p.Gln596fs
NP_001269474.1:p.Gln164fs
NP_001269477.1:p.Gln145fs
LRG_297t1:c.1838_1841dup
LRG_297:g.69580_69583dup
LRG_297p1:p.Gln615fs
NC_000002.11:g.215609852_215609853insACTG
NC_000002.11:g.215609853_215609856dup
NM_000465.4:c.1838_1841dup
NR_104212.2:n.1803_1806dup
NR_104215.2:n.1746_1749dup
NR_104216.2:n.1002_1005dup

Protein change:

Q145fs

Molecular consequence:

NM_000465.4:c.1838_1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282543.2:c.1781_1784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282545.2:c.485_488dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282548.2:c.428_431dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282549.2:c.365-14624_365-14621dup - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.1803_1806dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1746_1749dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1002_1005dup - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004053096	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 21, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004053096

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 21, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.

Kwong A, Shin VY, Chen J, Cheuk IWY, Ho CYS, Au CH, Chan KKL, Ngan HYS, Chan TL, Ford JM, Ma ESK.

J Mol Diagn. 2020 Apr;22(4):544-554. doi: 10.1016/j.jmoldx.2020.01.013. Epub 2020 Feb 15.

PubMed [citation]

PMID:: 32068069

Details of each submission

From Ambry Genetics, SCV004053096.2

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

Description

The c.1838_1841dupCAGT pathogenic mutation, located in coding exon 9 of the BARD1 gene, results from a duplication of CAGT at nucleotide position 1838, causing a translational frameshift with a predicted alternate stop codon (p.Q615Sfs*21). This alteration was identified in a cohort of 1338 Chinese high-risk breast and/or ovarian cancer patients (Kwong A et al. J Mol Diagn, 2020 Apr;22:544-554). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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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