NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 7, 2019
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:: RCV001001072.8

Allele description [Variation Report for NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys)]

NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys)

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.1226C>G (p.Ser409Cys)

HGVS:

NC_000002.12:g.214780648G>C
NG_012047.3:g.34064C>G
NM_000465.4:c.1226C>GMANE SELECT
NM_001282543.2:c.1169C>G
NM_001282545.2:c.215+16413C>G
NM_001282548.2:c.159-28093C>G
NM_001282549.2:c.364+11649C>G
NP_000456.2:p.Ser409Cys
NP_001269472.1:p.Ser390Cys
LRG_297t1:c.1226C>G
LRG_297:g.34064C>G
LRG_297p1:p.Ser409Cys
NC_000002.11:g.215645372G>C
NG_012047.2:g.34057C>G
NM_000465.2:c.1226C>G
NM_000465.3:c.1226C>G
NR_104212.2:n.1191C>G
NR_104215.2:n.1134C>G
p.S409C

Protein change:

S390C

Links:

dbSNP: rs786202226

NCBI 1000 Genomes Browser:

rs786202226

Molecular consequence:

NM_001282545.2:c.215+16413C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.159-28093C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11649C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.1226C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.1169C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.1191C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1134C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001158202	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Mar 7, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001158202

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Mar 7, 2019)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158202.1

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

Description

The BARD1 c.1226C>G; p.Ser409Cys variant (rs786202226), to our knowledge, is not reported in the medical literature but is reported as having uncertain significance in ClinVar (Variation ID: 185502). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 409 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

#	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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