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NM_206933.4(USH2A):c.4251+1del AND Retinitis pigmentosa 39

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Apr 11, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001587388.2

Allele description [Variation Report for NM_206933.4(USH2A):c.4251+1del]

NM_206933.4(USH2A):c.4251+1del

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.4251+1del
HGVS:
  • NC_000001.11:g.216196553del
  • NG_009497.2:g.231897del
  • NM_007123.6:c.4251+1del
  • NM_206933.4:c.4251+1delMANE SELECT
  • NC_000001.10:g.216369894del
  • NC_000001.10:g.216369895del
  • NM_206933.2:c.4251+1delG
Links:
dbSNP: rs2102460236
NCBI 1000 Genomes Browser:
rs2102460236
Molecular consequence:
  • NM_007123.6:c.4251+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_206933.4:c.4251+1del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

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
SCV001816014DBGen Ocular Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 23, 2021) 		germlineclinical testing

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

SCV004172151Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 11, 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
unspecifiedgermlineyes1not 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 DBGen Ocular Genomics, SCV001816014.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1unspecified1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Genome-Nilou Lab, SCV004172151.1

#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: Feb 28, 2024