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NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) AND Retinitis pigmentosa

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001003254.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)]

NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)
HGVS:
  • NC_000001.11:g.215674307A>C
  • NG_009497.2:g.754142T>G
  • NM_206933.4:c.13604T>GMANE SELECT
  • NP_996816.3:p.Met4535Arg
  • NC_000001.10:g.215847649A>C
  • NC_000001.10:g.215847649A>C
  • NG_009497.1:g.754090T>G
  • NM_206933.2:c.13604T>G
Protein change:
M4535R
Links:
dbSNP: rs750418422
NCBI 1000 Genomes Browser:
rs750418422
Molecular consequence:
  • NM_206933.4:c.13604T>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161335Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161335.1

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

Last Updated: Sep 29, 2024