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NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000048384.8
Variation ID:
48384
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)

Allele ID
57546
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215728189 (GRCh38) GRCh38 UCSC
1: 215901531 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215901531T>A
NC_000001.11:g.215728189T>A
NG_009497.1:g.700208A>T
... more HGVS
Protein change
-
Other names
p.P3969P:CCA>CCT
Canonical SPDI
NC_000001.11:215728188:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.03794 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.01334
Trans-Omics for Precision Medicine (TOPMed) 0.04315
The Genome Aggregation Database (gnomAD) 0.04389
Trans-Omics for Precision Medicine (TOPMed) 0.04681
The Genome Aggregation Database (gnomAD) 0.04072
1000 Genomes Project 0.03794
The Genome Aggregation Database (gnomAD), exomes 0.01177
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.04459
Links
ClinGen: CA143273
dbSNP: rs61635304
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Aug 12, 2011 RCV000041706.6
Benign 2 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000714157.3
Benign 1 criteria provided, single submitter Oct 21, 2019 RCV001282196.2
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001271130.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3406 4061

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844840.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Nov 24, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065402.6
Submitted: (Mar 21, 2019)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000317190.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Aug 12, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169764.10
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
(Oct 21, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001156874.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001725647.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001451981.1
Submitted: (Dec 28, 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 rs61635304...

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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 Nov 27, 2021