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NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 18, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000675179.6

Allele description [Variation Report for NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)]

NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
Other names:
NM_206933.4(USH2A):c.3407G>A
HGVS:
  • NC_000001.11:g.216200031C>T
  • NG_009497.2:g.228418G>A
  • NM_007123.6:c.3407G>A
  • NM_206933.4:c.3407G>AMANE SELECT
  • NP_009054.6:p.Ser1136Asn
  • NP_996816.3:p.Ser1136Asn
  • NC_000001.10:g.216373373C>T
  • NG_009497.1:g.228366G>A
  • NM_206933.1:c.3407G>A
  • NM_206933.2:c.3407G>A
  • NM_206933.3(USH2A):c.3407G>A
  • p.Ser1136Asn
Protein change:
S1136N
Links:
dbSNP: rs483353055
NCBI 1000 Genomes Browser:
rs483353055
Molecular consequence:
  • NM_007123.6:c.3407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3407G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 2A
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800808Counsyl
no assertion criteria provided
Likely pathogenic
(Apr 18, 2018) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Huang L, Zhang Q, Huang X, Qu C, Ma S, Mao Y, Yang J, Li Y, Li Y, Tan C, Zhao P, Yang Z.

Sci Rep. 2017 May 16;7(1):1948. doi: 10.1038/s41598-017-00963-6.

PubMed [citation]
PMID:
28512305
PMCID:
PMC5434011

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

PubMed [citation]
PMID:
22135276
PMCID:
PMC3678402
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000800808.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 15, 2025