NM_000465.4(BARD1):c.420_421delinsTT (p.Lys140_Asn141delinsAsnTyr) AND Familial cancer of breast

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 11, 2022
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:: RCV003094582.3

Allele description [Variation Report for NM_000465.4(BARD1):c.420_421delinsTT (p.Lys140_Asn141delinsAsnTyr)]

NM_000465.4(BARD1):c.420_421delinsTT (p.Lys140_Asn141delinsAsnTyr)

Gene:

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

Variant type:

Indel

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.420_421delinsTT (p.Lys140_Asn141delinsAsnTyr)

HGVS:

NC_000002.12:g.214781453_214781454delinsAA
NG_012047.3:g.33258_33259delinsTT
NM_000465.4:c.420_421delinsTTMANE SELECT
NM_001282543.2:c.363_364delinsTT
NM_001282545.2:c.215+15607_215+15608delinsTT
NM_001282548.2:c.158+27958_158+27959delinsTT
NM_001282549.2:c.364+10843_364+10844delinsTT
NP_000456.2:p.Lys140_Asn141delinsAsnTyr
NP_001269472.1:p.Lys121_Asn122delinsAsnTyr
LRG_297t1:c.420_421delinsTT
LRG_297:g.33258_33259delinsTT
LRG_297p1:p.Lys140_Asn141delinsAsnTyr
NC_000002.11:g.215646177_215646178delinsAA
NM_000465.2:c.420_421delGAinsTT
NR_104212.2:n.385_386delinsTT
NR_104215.2:n.328_329delinsTT

Molecular consequence:

NM_001282545.2:c.215+15607_215+15608delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+27958_158+27959delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10843_364+10844delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.420_421delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.363_364delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.385_386delinsTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.328_329delinsTT - 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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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003479275	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 11, 2022)	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

SCV003479275

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 11, 2022)

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, SCV003479275.2

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

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BARD1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.420_421delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the BARD1 protein (p.Lys140_Asn141delinsAsnTyr).

#	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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