NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) AND Retinitis pigmentosa

Clinical significance:Pathogenic (Last evaluated: Jan 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001003256.2

Allele description [Variation Report for NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)]

NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
HGVS:
  • NC_000001.11:g.215675463T>C
  • NG_009497.1:g.752934A>G
  • NG_009497.2:g.752986A>G
  • NM_206933.4:c.12448A>GMANE SELECT
  • NP_996816.3:p.Thr4150Ala
  • NC_000001.10:g.215848805T>C
  • NM_206933.2:c.12448A>G
Protein change:
T4150A
Links:
dbSNP: rs1172628170
NCBI 1000 Genomes Browser:
rs1172628170
Molecular consequence:
  • NM_206933.4:c.12448A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001161338Sharon lab,Hadassah-Hebrew University Medical Centerno assertion criteria providedLikely pathogenic
(Jun 23, 2019)
inheritedresearch

SCV001162721Molecular Genetics Laboratory,Institute for Ophthalmic Researchcriteria provided, single submitter
Pathogenic
(Jan 9, 2020)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

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 Sharon lab,Hadassah-Hebrew University Medical Center, SCV001161338.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

From Molecular Genetics Laboratory,Institute for Ophthalmic Research, SCV001162721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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