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NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) AND Retinitis pigmentosa 39

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 4, 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:
RCV002067731.2

Allele description [Variation Report for NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)]

NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
HGVS:
  • NC_000001.11:g.215675607TGT[1]
  • NC_000001.11:g.215675607_215675609TGT[1]
  • NG_009497.2:g.752837ACA[1]
  • NM_206933.4:c.12299ACA[1]MANE SELECT
  • NP_996816.3:p.Asn4101del
  • NC_000001.10:g.215848949TGT[1]
  • NC_000001.10:g.215848949_215848951del
  • NG_009497.1:g.752785ACA[1]
  • NM_206933.2:c.12302_12304del
Protein change:
N4101del
Links:
dbSNP: rs1657997491
NCBI 1000 Genomes Browser:
rs1657997491
Molecular consequence:
  • NM_206933.4:c.12299ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
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
SCV002496127Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 17, 2022) 		germlineclinical testing

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

SCV004182018Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 4, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
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 Institute of Human Genetics, University Hospital Muenster, SCV002496127.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PM2,PM4,PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedbloodnot provided1not providednot providednot provided

From Genome-Nilou Lab, SCV004182018.1

#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: Sep 29, 2024