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NM_153676.4(USH1C):c.1386G>A (p.Gln462=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 3, 2021)
Last evaluated:
Jan 24, 2020
Accession:
VCV000711713.5
Variation ID:
711713
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.1386G>A (p.Gln462=)

Allele ID
730755
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17511929 (GRCh38) GRCh38 UCSC
11: 17533476 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17511929C>T
NG_011883.1:g.37488G>A
NG_011883.2:g.37488G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17511928:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00015
The Genome Aggregation Database (gnomAD) 0.00016
Exome Aggregation Consortium (ExAC) 0.00019
Links
dbSNP: rs141564204
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 24, 2020 RCV000883516.4
Likely benign 1 criteria provided, single submitter Apr 30, 2012 RCV001195474.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH1C - - GRCh38
GRCh37
702 725

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001026828.2
Submitted: (Jan 29, 2020)
Evidence details
Likely 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: SCV001365851.1
Submitted: (May 14, 2020)
Evidence details
Comment:
Gln462Gln in Exon 16 of USH1C: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is … (more)
Likely benign
(Jan 24, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001768186.1
Submitted: (Aug 03, 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 rs141564204...

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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 Sep 23, 2021