NM_000465.4(BARD1):c.403_404delinsTT (p.Asp135Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 5, 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:: RCV002375752.2

Allele description [Variation Report for NM_000465.4(BARD1):c.403_404delinsTT (p.Asp135Phe)]

NM_000465.4(BARD1):c.403_404delinsTT (p.Asp135Phe)

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.403_404delinsTT (p.Asp135Phe)

HGVS:

NC_000002.12:g.214781470_214781471delinsAA
NG_012047.3:g.33241_33242delinsTT
NM_000465.4:c.403_404delinsTTMANE SELECT
NM_001282543.2:c.346_347delinsTT
NM_001282545.2:c.215+15590_215+15591delinsTT
NM_001282548.2:c.158+27941_158+27942delinsTT
NM_001282549.2:c.364+10826_364+10827delinsTT
NP_000456.2:p.Asp135Phe
NP_001269472.1:p.Asp116Phe
LRG_297t1:c.403_404delinsTT
LRG_297:g.33241_33242delinsTT
LRG_297p1:p.Asp135Phe
NC_000002.11:g.215646194_215646195delinsAA
NM_000465.2:c.403_404delGAinsTT
NR_104212.2:n.368_369delinsTT
NR_104215.2:n.311_312delinsTT

Protein change:

D116F

Molecular consequence:

NM_001282545.2:c.215+15590_215+15591delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+27941_158+27942delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10826_364+10827delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.403_404delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.346_347delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.368_369delinsTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.311_312delinsTT - 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
SCV002625625	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 5, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002625625

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 5, 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, SCV002625625.2

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

Description

The c.403_404delGAinsTT variant (also known as p.D135F), located in coding exon 4 of the BARD1 gene, results from an in-frame deletion of GA and insertion of TT at nucleotide positions 403 to 404. This results in the substitution of the aspartic acid residue for a phenylalanine residue at codon 135, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (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

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