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NM_153676.4(USH1C):c.2004C>A (p.Pro668=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Sep 19, 2019
Accession:
VCV000667178.3
Variation ID:
667178
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.2004C>A (p.Pro668=)

Allele ID
654654
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17509365 (GRCh38) GRCh38 UCSC
11: 17530912 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17509365G>T
NC_000011.9:g.17530912G>T
NM_153676.4:c.2004C>A MANE Select NP_710142.1:p.Pro668= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17509364:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00043
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD), exomes 0.00051
Links
dbSNP: rs201586291
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 23, 2017 RCV000825846.1
Benign 1 criteria provided, single submitter Oct 17, 2018 RCV000903646.1
Likely benign 1 criteria provided, single submitter Sep 19, 2019 RCV001286668.1
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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
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967330.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Pro668Pro in exon 18 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue … (more)
Benign
(Oct 17, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001048124.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Sep 19, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473277.1
Submitted: (Dec 11, 2020)
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 rs201586291...

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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