NM_000465.4(BARD1):c.1289C>G (p.Thr430Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 28, 2017
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:: RCV000212126.2

Allele description [Variation Report for NM_000465.4(BARD1):c.1289C>G (p.Thr430Ser)]

NM_000465.4(BARD1):c.1289C>G (p.Thr430Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.1289C>G (p.Thr430Ser)

Other names:

p.T430S:ACT>AGT

HGVS:

NC_000002.12:g.214780585G>C
NG_012047.3:g.34127C>G
NM_000465.4:c.1289C>GMANE SELECT
NM_001282543.2:c.1232C>G
NM_001282545.2:c.215+16476C>G
NM_001282548.2:c.159-28030C>G
NM_001282549.2:c.364+11712C>G
NP_000456.2:p.Thr430Ser
NP_001269472.1:p.Thr411Ser
LRG_297t1:c.1289C>G
LRG_297:g.34127C>G
LRG_297p1:p.Thr430Ser
NC_000002.11:g.215645309G>C
NG_012047.2:g.34120C>G
NM_000465.2:c.1289C>G
NM_000465.3:c.1289C>G
NR_104212.2:n.1254C>G
NR_104215.2:n.1197C>G
p.T430S

Protein change:

T411S

Links:

dbSNP: rs587780015

NCBI 1000 Genomes Browser:

rs587780015

Molecular consequence:

NM_001282545.2:c.215+16476C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.159-28030C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11712C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.1289C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.1232C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.1254C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1197C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000149519	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jun 28, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149519

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jun 28, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000149519.13

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

Description

This variant is denoted BARD1 c.1289C>G at the cDNA level, p.Thr430Ser (T430S) at the protein level, and results in the change of a Threonine to a Serine (ACT>AGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BARD1 Thr430Ser was observed at an allele frequency of 0.003% (2/66422) in individuals of European ancestry (Non-Finnish) in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Threonine and Serine share similar properties, this is considered a conservative amino acid substitution. BARD1 Thr430Ser occurs at a position that is conserved across species and is located in the first ANK repeat region (Fox 2008). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BARD1 Thr430Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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