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NM_153676.4(USH1C):c.497-3C>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 22, 2020
Accession:
VCV000505102.4
Variation ID:
505102
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.497-3C>A

Allele ID
496972
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17527043 (GRCh38) GRCh38 UCSC
11: 17548590 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17527043G>T
NC_000011.9:g.17548590G>T
NM_153676.4:c.497-3C>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17527042:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA218461365
dbSNP: rs958295779
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 2, 2016 RCV000610316.1
Uncertain significance 1 criteria provided, single submitter Feb 22, 2020 RCV001064690.2
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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
Uncertain significance
(Jun 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000712220.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The c.497-3C>A variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome. Data from large population studies are insu … (more)
Uncertain significance
(Feb 22, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001229603.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 5 of the USH1C gene. It does not directly change the encoded amino acid sequence of the USH1C protein, … (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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Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs958295779...

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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 07, 2021