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NM_206933.4(USH2A):c.12294+1G>C AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2022
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:
RCV001386543.9

Allele description [Variation Report for NM_206933.4(USH2A):c.12294+1G>C]

NM_206933.4(USH2A):c.12294+1G>C

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.12294+1G>C
HGVS:
  • NC_000001.11:g.215680148C>G
  • NG_009497.2:g.748301G>C
  • NM_206933.4:c.12294+1G>CMANE SELECT
  • NC_000001.10:g.215853490C>G
  • NM_206933.2:c.12294+1G>C
  • c.12294+1G>C
Links:
dbSNP: rs111033526
NCBI 1000 Genomes Browser:
rs111033526
Molecular consequence:
  • NM_206933.4:c.12294+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001586804Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 1, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.

Sci Rep. 2017 Feb 3;7:41937. doi: 10.1038/srep41937.

PubMed [citation]
PMID:
28157192
PMCID:
PMC5291209

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001586804.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 48394). Disruption of this splice site has been observed in individuals with retinitis pigmentosa or Usher syndrome (PMID: 28157192; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 62 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024