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NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000672408.1

Allele description [Variation Report for NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)]

NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)
HGVS:
  • NC_000001.11:g.215817154C>T
  • NG_009497.1:g.611243G>A
  • NG_009497.2:g.611295G>A
  • NM_206933.4:c.9413G>AMANE SELECT
  • NP_996816.3:p.Gly3138Asp
  • NC_000001.10:g.215990496C>T
  • NM_206933.2:c.9413G>A
Protein change:
G3138D
Links:
dbSNP: rs756163056
NCBI 1000 Genomes Browser:
rs756163056
Molecular consequence:
  • NM_206933.4:c.9413G>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
SCV000797509Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 30, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA, Pierrache LH, Meester-Smoor MA, Klaver CC, van den Born LI, Hoyng CB, de Wijs IJ, Collin RW, Hoefsloot LH, Klevering BJ.

Mol Vis. 2015;21:461-76.

PubMed [citation]
PMID:
25999674
PMCID:
PMC4415583

Details of each submission

From Counsyl, SCV000797509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022