NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3]) AND Familial cancer of breast

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 7, 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:: RCV000459522.10

Allele description [Variation Report for NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3])]

NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3])

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.26_40dup (p.4_8NRQPR[3])

HGVS:

NC_000002.12:g.214809543_214809557dup
NG_012047.3:g.5168_5182dup
NM_000465.4:c.26_40dupMANE SELECT
NM_001282543.2:c.26_40dup
NM_001282545.2:c.26_40dup
NM_001282548.2:c.26_40dup
NM_001282549.2:c.26_40dup
NP_000456.2:p.4_8NRQPR[3]
NP_001269472.1:p.4_8NRQPR[3]
NP_001269474.1:p.4_8NRQPR[3]
NP_001269477.1:p.4_8NRQPR[3]
NP_001269478.1:p.4_8NRQPR[3]
LRG_297t1:c.26_40dup
LRG_297:g.5168_5182dup
LRG_297p1:p.4_8NRQPR[3]
NC_000002.11:g.215674253_215674254insTCCTCGGCTGCCGGT
NC_000002.11:g.215674267_215674281dup
NG_012047.2:g.5161_5175dup
NM_000465.2:c.26_40dupACCGGCAGCCGAGGA
NM_000465.3:c.26_40dupACCGGCAGCCGAGGA
NR_104212.2:n.140_154dup
NR_104215.2:n.140_154dup
NR_104216.2:n.140_154dup

Links:

dbSNP: rs587781979

NCBI 1000 Genomes Browser:

rs587781979

Molecular consequence:

NM_000465.4:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282543.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282545.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282548.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282549.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_104212.2:n.140_154dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.140_154dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.140_154dup - 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

Clear Turn Off Turn On

Mus musculus nuclear receptor subfamily 1, group H, member 3 (Nr1h3), transcript...
Mus musculus nuclear receptor subfamily 1, group H, member 3 (Nr1h3), transcript variant 3, mRNA
gi|1242013565|ref|NM_001355279.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000545560	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000545560

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 7, 2023)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000545560.9

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

Description

This variant, c.26_40dup, results in the insertion of 5 amino acid(s) of the BARD1 protein (p.Asn9_Arg13dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 229935). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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

ClinVar

Relating variation to medicine