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NM_206933.4(USH2A):c.2256T>C (p.His752=) AND Retinitis pigmentosa

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001101007.12

Allele description [Variation Report for NM_206933.4(USH2A):c.2256T>C (p.His752=)]

NM_206933.4(USH2A):c.2256T>C (p.His752=)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.2256T>C (p.His752=)
HGVS:
  • NC_000001.11:g.216247138A>G
  • NG_009497.2:g.181311T>C
  • NM_007123.6:c.2256T>C
  • NM_206933.4:c.2256T>CMANE SELECT
  • NP_009054.6:p.His752=
  • NP_996816.3:p.His752=
  • NC_000001.10:g.216420480A>G
  • NG_009497.1:g.181259T>C
  • NM_007123.5:c.2256T>C
  • NM_206933.2:c.2256T>C
  • NM_206933.3:c.2256T>C
  • c.2256T>C
  • p.His752His
Links:
dbSNP: rs111033281
NCBI 1000 Genomes Browser:
rs111033281
Molecular consequence:
  • NM_007123.6:c.2256T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_206933.4:c.2256T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001257562Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

Aller E, Nájera C, Millán JM, Oltra JS, Pérez-Garrigues H, Vilela C, Navea A, Beneyto M.

Eur J Hum Genet. 2004 May;12(5):407-10.

PubMed [citation]
PMID:
14970843

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP.

Exp Eye Res. 2004 Aug;79(2):167-73.

PubMed [citation]
PMID:
15325563
See all PubMed Citations (6)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001257562.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Nov 10, 2024