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NM_000165.5(GJA1):c.*173G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 17, 2021)
Last evaluated:
Jul 5, 2018
Accession:
VCV000355167.4
Variation ID:
355167
Description:
single nucleotide variant
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NM_000165.5(GJA1):c.*173G>A

Allele ID
305838
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q22.31
Genomic location
6: 121448169 (GRCh38) GRCh38 UCSC
6: 121769315 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.121769315G>A
NC_000006.12:g.121448169G>A
NG_008308.1:g.17571G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:121448168:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.05631 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.03954
Trans-Omics for Precision Medicine (TOPMed) 0.04111
Trans-Omics for Precision Medicine (TOPMed) 0.03720
1000 Genomes Project 0.05631
The Genome Aggregation Database (gnomAD) 0.04622
Links
ClinGen: CA10625785
dbSNP: rs72548744
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000267700.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000296888.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000359955.2
Benign 1 criteria provided, single submitter Jul 5, 2018 RCV001672671.2
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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
153 169

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Oculodentodigital dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459851.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Syndactyly type 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459852.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hypoplastic left heart syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459850.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 05, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001889456.1
Submitted: (Sep 17, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs72548744...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021