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NM_153676.4(USH1C):c.2184+10T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Aug 29, 2018
Accession:
VCV000178565.5
Variation ID:
178565
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.2184+10T>C

Allele ID
175817
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17504637 (GRCh38) GRCh38 UCSC
11: 17526184 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17526184A>G
NC_000011.10:g.17504637A>G
NG_011883.1:g.44780T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17504636:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
Trans-Omics for Precision Medicine (TOPMed) 0.00084
Exome Aggregation Consortium (ExAC) 0.00025
The Genome Aggregation Database (gnomAD) 0.00074
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00021
Links
ClinGen: CA182571
dbSNP: rs200889109
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, single submitter Apr 30, 2012 RCV000155313.2
Benign 2 criteria provided, single submitter Aug 29, 2018 RCV000943311.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204999.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
2184+10T>C in Intron 20 of USH1C: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus … (more)
Benign
(Aug 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001089256.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925191.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969808.1
Submitted: (Sep 21, 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 rs200889109...

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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 Oct 07, 2021