NM_000465.4(BARD1):c.42C>G (p.Ile14Met) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 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:: RCV002327496.2

Allele description [Variation Report for NM_000465.4(BARD1):c.42C>G (p.Ile14Met)]

NM_000465.4(BARD1):c.42C>G (p.Ile14Met)

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.42C>G (p.Ile14Met)

HGVS:

NC_000002.12:g.214809528G>C
NG_012047.3:g.5184C>G
NM_000465.4:c.42C>GMANE SELECT
NM_001282543.2:c.42C>G
NM_001282545.2:c.42C>G
NM_001282548.2:c.42C>G
NM_001282549.2:c.42C>G
NP_000456.2:p.Ile14Met
NP_001269472.1:p.Ile14Met
NP_001269474.1:p.Ile14Met
NP_001269477.1:p.Ile14Met
NP_001269478.1:p.Ile14Met
LRG_297t1:c.42C>G
LRG_297:g.5184C>G
LRG_297p1:p.Ile14Met
NC_000002.11:g.215674252G>C
NG_012047.2:g.5177C>G
NM_000465.2:c.42C>G
NM_000465.3:c.42C>G
NR_104212.2:n.156C>G
NR_104215.2:n.156C>G
NR_104216.2:n.156C>G

Protein change:

I14M

Links:

dbSNP: rs746266678

NCBI 1000 Genomes Browser:

rs746266678

Molecular consequence:

NM_000465.4:c.42C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.42C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.42C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.42C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.42C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.156C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.156C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.156C>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002626722	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002626722

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 26, 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, SCV002626722.2

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

Description

The c.42C>G (p.I14M) alteration is located in exon 1 (coding exon 1) of the BARD1 gene. This alteration results from a C to G substitution at nucleotide position 42, causing the isoleucine (I) at amino acid position 14 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, 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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