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NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000047999.7
Variation ID:
47999
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser)

Allele ID
57163
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17501084 (GRCh38) GRCh38 UCSC
11: 17522631 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17501084C>A
NC_000011.9:g.17522631C>A
NM_153676.4:c.2347G>T MANE Select NP_710142.1:p.Ala783Ser missense
... more HGVS
Protein change
A483S, A783S, A464S
Other names
-
Canonical SPDI
NC_000011.10:17501083:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01318 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01166
The Genome Aggregation Database (gnomAD), exomes 0.00316
Trans-Omics for Precision Medicine (TOPMed) 0.01328
Exome Aggregation Consortium (ExAC) 0.00410
1000 Genomes Project 0.01318
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01509
Links
dbSNP: rs34077456
ClinGen: CA142338
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 Oct 23, 2017 RCV000041275.5
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV000969059.3
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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
(Oct 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730466.1
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
(May 04, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064966.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Ala783Ser in exon 23 of USH1C: This variant is not expected to have clinical sig nificance because it was identified in dbSNP in 2.6% (5/194) … (more)
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001116550.3
Submitted: (Jan 07, 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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Title Author Journal Year Link
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. Roux AF Journal of medical genetics 2006 PMID: 16679490

Text-mined citations for rs34077456...

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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