NM_000465.4(BARD1):c.417GAA[1] (p.Lys140del) AND Familial cancer of breast

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 23, 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:: RCV000469970.8

Allele description [Variation Report for NM_000465.4(BARD1):c.417GAA[1] (p.Lys140del)]

NM_000465.4(BARD1):c.417GAA[1] (p.Lys140del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.417GAA[1] (p.Lys140del)

HGVS:

NC_000002.12:g.214781454CTT[1]
NG_012047.3:g.33255GAA[1]
NM_000465.4:c.417GAA[1]MANE SELECT
NM_001282543.2:c.360GAA[1]
NM_001282545.2:c.215+15607_215+15609del
NM_001282548.2:c.158+27958_158+27960del
NM_001282549.2:c.364+10843_364+10845del
NP_000456.2:p.Lys140del
NP_001269472.1:p.Lys121del
LRG_297t1:c.417GAA[1]
LRG_297:g.33255GAA[1]
LRG_297p1:p.Lys140del
NC_000002.11:g.215646176_215646178del
NC_000002.11:g.215646178CTT[1]
NM_000465.2:c.420_422delGAA
NM_000465.3:c.420_422del
NM_000465.3:c.420_422delGAA
NM_000465.4:c.420_422delMANE SELECT
NR_104212.2:n.382GAA[1]
NR_104215.2:n.325GAA[1]

Protein change:

K121del

Links:

dbSNP: rs1060501278

NCBI 1000 Genomes Browser:

rs1060501278

Molecular consequence:

NM_000465.4:c.417GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282543.2:c.360GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282545.2:c.215+15607_215+15609del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+27958_158+27960del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10843_364+10845del - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.382GAA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.325GAA[1] - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000545564	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 23, 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

SCV000545564

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 23, 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, SCV000545564.7

#	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.420_422del, results in the deletion of 1 amino acid(s) of the BARD1 protein (p.Lys140del), but otherwise preserves the integrity of the reading frame. 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. ClinVar contains an entry for this variant (Variation ID: 406733). 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

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