NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 22, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000570710.6

Allele description [Variation Report for NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)]

NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)

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.1104C>G (p.Cys368Trp)

HGVS:

NC_000002.12:g.214780770G>C
NG_012047.3:g.33942C>G
NM_000465.4:c.1104C>GMANE SELECT
NM_001282543.2:c.1047C>G
NM_001282545.2:c.215+16291C>G
NM_001282548.2:c.159-28215C>G
NM_001282549.2:c.364+11527C>G
NP_000456.2:p.Cys368Trp
NP_001269472.1:p.Cys349Trp
LRG_297t1:c.1104C>G
LRG_297:g.33942C>G
LRG_297p1:p.Cys368Trp
NC_000002.11:g.215645494G>C
NG_012047.2:g.33935C>G
NM_000465.2:c.1104C>G
NM_000465.3:c.1104C>G
NR_104212.2:n.1069C>G
NR_104215.2:n.1012C>G

Protein change:

C349W

Links:

dbSNP: rs371147849

NCBI 1000 Genomes Browser:

rs371147849

Molecular consequence:

NM_001282545.2:c.215+16291C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.159-28215C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11527C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.1104C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.1047C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.1069C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1012C>G - 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

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
SCV000660811	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 22, 2023)	germline	clinical testing	Citation Link,
SCV002526983	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Dec 16, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000660811

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 22, 2023)

germline

clinical testing

Citation Link,

SCV002526983

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Dec 16, 2021)

germline

curation

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, curation

Details of each submission

From Ambry Genetics, SCV000660811.6

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

Description

The p.C368W variant (also known as c.1104C>G), located in coding exon 4 of the BARD1 gene, results from a C to G substitution at nucleotide position 1104. The cysteine at codon 368 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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

From Sema4, Sema4, SCV002526983.1

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

#	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