NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) AND not specified

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Aug 15, 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:: RCV000212143.17

Allele description [Variation Report for NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)]

NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)

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.2212A>G (p.Ile738Val)

Other names:

p.I738V:ATC>GTC; NP_000456.2:p.Ile738Val

HGVS:

NC_000002.12:g.214728798T>C
NG_012047.3:g.85914A>G
NM_000465.4:c.2212A>GMANE SELECT
NM_001282543.2:c.2155A>G
NM_001282545.2:c.859A>G
NM_001282548.2:c.802A>G
NM_001282549.2:c.673A>G
NP_000456.2:p.Ile738Val
NP_001269472.1:p.Ile719Val
NP_001269474.1:p.Ile287Val
NP_001269477.1:p.Ile268Val
NP_001269478.1:p.Ile225Val
LRG_297t1:c.2212A>G
LRG_297:g.85914A>G
LRG_297p1:p.Ile738Val
NC_000002.11:g.215593522T>C
NG_012047.2:g.85907A>G
NM_000465.2:c.2212A>G
NM_000465.3:c.2212A>G
NR_104212.2:n.2177A>G
NR_104215.2:n.2120A>G
NR_104216.2:n.1376A>G
p.I738V

Protein change:

I225V

Links:

dbSNP: rs61754118

NCBI 1000 Genomes Browser:

rs61754118

Molecular consequence:

NM_000465.4:c.2212A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.2155A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.859A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.673A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.2177A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.2120A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1376A>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
SCV000167169	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Oct 18, 2013)	germline	clinical testing	Citation Link,
SCV000806121	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 28, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000888810	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Jul 24, 2020)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16061562, 26307947, 20077502, 19197335, 26467025
SCV002067942	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Sep 18, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002760231	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer.

Sauer MK, Andrulis IL.

J Med Genet. 2005 Aug;42(8):633-8.

PubMed [citation]

PMID:: 16061562
PMCID:: PMC1736120

Multimodal approach to explore the pathogenicity of BARD1, ARG 658 CYS, and ILE 738 VAL mutants.

Choudhary RK, Vikrant, Siddiqui QM, Thapa PS, Raikundalia S, Gadewal N, Kumar NS, Hosur MV, Varma AK.

J Biomol Struct Dyn. 2016 Jul;34(7):1533-44. doi: 10.1080/07391102.2015.1082149. Epub 2015 Sep 23.

PubMed [citation]

PMID:: 26307947

See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000167169.11

#	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 considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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

From PreventionGenetics, part of Exact Sciences, SCV000806121.1

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

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888810.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

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

From Genetic Services Laboratory, University of Chicago, SCV002067942.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760231.3

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

#	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: May 19, 2024

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