NM_000465.4(BARD1):c.420_421delinsTT (p.Lys140_Asn141delinsAsnTyr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 8, 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:: RCV002327864.2

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:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Mus musculus domesticus clone Adult4_zX5_7 receptor-type tyrosine-protein phosph...
Mus musculus domesticus clone Adult4_zX5_7 receptor-type tyrosine-protein phosphatase zeta transcript variant 8 (Ptprz1) mRNA, partial cds
gi|2738727976|gb|PP524883.1|

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
SCV002631512	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 8, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002631512

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 8, 2022)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV002631512.2

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

Description

The c.420_421delGAinsTT variant (also known as p.K140_N141delinsNY), located in coding exon 4 of the BARD1 gene, results from an in-frame deletion of GA and insertion of TT at nucleotide positions 420 to 421. This results in the substitution of lysine and asparagine residues for asparagine and tyrosine residues at codon 140 and 141. These amino acid positions are well conserved through mammals. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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