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NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 15, 2021)
Last evaluated:
Dec 31, 2019
Accession:
VCV000178379.8
Variation ID:
178379
Description:
single nucleotide variant
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NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)

Allele ID
173952
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p13
Genomic location
4: 42893538 (GRCh38) GRCh38 UCSC
4: 42895555 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
A8MXD5:p.Gly91Val
NC_000004.11:g.42895555G>T
NM_001080476.2:c.272G>T NP_001073945.1:p.Gly91Val missense
... more HGVS
Protein change
G91V
Other names
-
Canonical SPDI
NC_000004.12:42893537:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00322
Trans-Omics for Precision Medicine (TOPMed) 0.00327
The Genome Aggregation Database (gnomAD) 0.00339
The Genome Aggregation Database (gnomAD), exomes 0.00464
1000 Genomes Project 0.00280
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00299
The Genome Aggregation Database (gnomAD) 0.00319
Exome Aggregation Consortium (ExAC) 0.00506
Links
UniProtKB: A8MXD5#VAR_063163
ClinGen: CA182217
dbSNP: rs113203706
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000431947.7
Benign 1 criteria provided, single submitter Apr 30, 2012 RCV000155126.4
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001147182.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRXCR1 - - GRCh38
GRCh37
79 100

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204812.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Gly91Val in Exon 01 of GRXCR1: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (25/6762) of … (more)
Likely Benign
(Nov 07, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511641.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Nov 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144119.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (2)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001099026.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 25
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001307967.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Jul 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000718775.2
Submitted: (Jul 15, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 20137774, 20137778)

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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Title Author Journal Year Link
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Schraders M American journal of human genetics 2010 PMID: 20137778
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Odeh H American journal of human genetics 2010 PMID: 20137774

Text-mined citations for rs113203706...

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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