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NM_153676.4(USH1C):c.1086-42G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 20, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000670416.2
Variation ID:
670416
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.1086-42G>A

Allele ID
665673
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17521036 (GRCh38) GRCh38 UCSC
11: 17542583 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17521036C>T
NC_000011.9:g.17542583C>T
NM_153676.4:c.1086-42G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17521035:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.38598 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.57557
1000 Genomes Project 0.61402
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.56723
Exome Aggregation Consortium (ExAC) 0.61596
The Genome Aggregation Database (gnomAD), exomes 0.61608
Trans-Omics for Precision Medicine (TOPMed) 0.58002
Links
dbSNP: rs2108332
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 Jun 14, 2018 RCV000829566.1
Benign 1 criteria provided, single submitter Jul 10, 2021 RCV001538052.1
Benign 1 criteria provided, single submitter Jul 10, 2021 RCV001538053.1
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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
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000971296.1
Submitted: (Apr 12, 2019)
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
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 1C
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001755062.1
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: SCV001755063.1
Submitted: (Jul 20, 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 rs2108332...

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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