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NM_206933.4(USH2A):c.2256T>C (p.His752=) AND Retinitis pigmentosa 39

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 4, 2023
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:
RCV003450831.1

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 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
    SCV004182447Genome-Nilou Lab
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Likely benign
    (Nov 4, 2023)     		germlineclinical testing

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

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

    Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed [citation]
    PMID:
    25741868
    PMCID:
    PMC4544753

    Details of each submission

    From Genome-Nilou Lab, SCV004182447.1

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

    Last Updated: Nov 10, 2024