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NM_153676.4(USH1C):c.2134-12T>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 20, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000047989.3
Variation ID:
47989
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.2134-12T>C

Allele ID
57153
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17504709 (GRCh38) GRCh38 UCSC
11: 17526256 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17504709A>G
NC_000011.9:g.17526256A>G
NM_153676.4:c.2134-12T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17504708:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.02616 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.13441
Trans-Omics for Precision Medicine (TOPMed) 0.04644
1000 Genomes Project 0.02616
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05344
The Genome Aggregation Database (gnomAD), exomes 0.13303
The Genome Aggregation Database (gnomAD) 0.04669
Links
ClinGen: CA142320
dbSNP: rs76769358
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts May 8, 2013 RCV000041265.4
Benign 1 criteria provided, single submitter Jul 10, 2021 RCV001538017.1
Benign 1 criteria provided, single submitter Jul 10, 2021 RCV001538018.1
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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
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 1C
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001755000.1
Submitted: (Jul 20, 2021)
Evidence details
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 18
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001755001.1
Submitted: (Jul 20, 2021)
Evidence details
Benign
(May 08, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169727.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
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 … (more)
Benign
(Mar 26, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064956.7
Submitted: (Mar 21, 2019)
Evidence details
Comment:
2134-12T>C in intron 21 of USH1C: This variant is not expected to have clinical significance because it has been identified in 7.7% (524/7020) of European … (more)

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 rs76769358...

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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 Jul 26, 2021