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NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 14, 2018
Accession:
VCV000048535.5
Variation ID:
48535
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)

Allele ID
57697
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216073292 (GRCh38) GRCh38 UCSC
1: 216246634 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216246634C>T
NC_000001.11:g.216073292C>T
NG_009497.1:g.355105G>A
... more HGVS
Protein change
G1861S
Other names
NM_206933.2(USH2A):c.5581G>A(p.Gly1861Ser)
NM_206933.2(USH2A):c.5581G>A
Canonical SPDI
NC_000001.11:216073291:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA262105
UniProtKB: O75445#VAR_072008
dbSNP: rs375668376
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 reviewed by expert panel Sep 14, 2018 RCV000710326.1
Likely pathogenic 1 criteria provided, single submitter Dec 7, 2011 RCV000041861.2
Likely pathogenic 1 criteria provided, single submitter Jun 26, 2017 RCV000667951.1
Pathogenic 1 criteria provided, single submitter Nov 13, 2018 RCV001074044.1
Pathogenic 1 criteria provided, single submitter Oct 8, 2020 RCV001214945.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3452 4058
USH2A-AS2 - - - GRCh38 - 262

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 14, 2018)
reviewed by expert panel
Method: curation
Usher syndrome
(Autosomal recessive inheritance)
Allele origin: germline
ClinGen Hearing Loss Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000840514.3
Submitted: (Feb 27, 2019)
Evidence details
Publications
PubMed (4)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The allele frequency of the p.Gly1861Ser variant in USH2A is 0.017% (3/17184) of East Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org), which is a … (more)
Likely pathogenic
(Jun 26, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000792480.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(Oct 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001386654.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with serine at codon 1861 of the USH2A protein (p.Gly1861Ser). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(Dec 07, 2011)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065557.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Gly1861Ser variant in USH2A has been identified by our laboratory in one pat ient with Usher syndrome who was a compound heterozygote with a … (more)
Pathogenic
(Nov 13, 2018)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239612.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
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
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Sun T Investigative ophthalmology & visual science 2018 PMID: 29625443
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Jiang L Orphanet journal of rare diseases 2015 PMID: 26338283
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. Zheng SL International journal of molecular medicine 2015 PMID: 26310143
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. Huang XF Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25356976
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. Huang XF PloS one 2013 PMID: 23737954
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/16f373e0-f3cf-4ebe-91ea-6d1a22e44f9c - - - -

Text-mined citations for rs375668376...

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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 30, 2021