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NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) AND multiple conditions

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Nov 22, 2022
Review status:
no classifications from unflagged records
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:
RCV000667534.2

Allele description [Variation Report for NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)]

NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
HGVS:
  • NC_000001.11:g.216325447C>T
  • NG_009497.2:g.103002G>A
  • NM_007123.6:c.1001G>A
  • NM_206933.4:c.1001G>AMANE SELECT
  • NP_009054.6:p.Arg334Gln
  • NP_996816.3:p.Arg334Gln
  • NC_000001.10:g.216498789C>T
  • NG_009497.1:g.102950G>A
  • NM_206933.2:c.1001G>A
Protein change:
R334Q
Links:
dbSNP: rs758303489
NCBI 1000 Genomes Browser:
rs758303489
Molecular consequence:
  • NM_007123.6:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.1001G>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
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Citations

PubMed

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF.

Hum Mutat. 2007 Aug;28(8):781-9.

PubMed [citation]
PMID:
17405132

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, et al.

Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25.

PubMed [citation]
PMID:
27344577
PMCID:
PMC5497215

Details of each submission

From Counsyl, SCV000792003.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000792003Counsyl
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jun 2, 2017) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Last Updated: Oct 13, 2024