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NM_000165.5(GJA1):c.*243A>G

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000355170.1
Variation ID:
355170
Description:
single nucleotide variant
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NM_000165.5(GJA1):c.*243A>G

Allele ID
298849
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.31
Genomic location
6: 121448239 (GRCh38) GRCh38 UCSC
6: 121769385 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.121448239A>G
NC_000006.11:g.121769385A>G
NM_000165.5:c.*243A>G
NG_008308.1:g.17641A>G
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00938 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00921
1000 Genomes Project 0.00938
The Genome Aggregation Database (gnomAD) 0.00843
Links
dbSNP: rs139128953
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000289708.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000328392.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000381548.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJA1 No evidence available No evidence available GRCh38
GRCh37
82 96

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hypoplastic Left Heart Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459859.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Syndactyly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459861.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Oculodentodigital Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459860.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 17, 2019