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NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) AND USH2A-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 13, 2024
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:
RCV004733115.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)]

NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
HGVS:
  • NC_000001.11:g.215674778G>A
  • NG_009497.2:g.753671C>T
  • NM_206933.4:c.13133C>TMANE SELECT
  • NP_996816.3:p.Pro4378Leu
  • NC_000001.10:g.215848120G>A
  • NC_000001.10:g.215848120G>A
  • NG_009497.1:g.753619C>T
  • NM_206933.2:c.13133C>T
  • NM_206933.3:c.13133C>T
  • p.Pro4378Leu
Protein change:
P4378L
Links:
dbSNP: rs570277510
NCBI 1000 Genomes Browser:
rs570277510
Molecular consequence:
  • NM_206933.4:c.13133C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
USH2A-related disorder
Synonyms:
USH2A-Related Disorders; USH2A-related condition
Identifiers:
MedGen: CN239332

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005350639PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Sep 13, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005350639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The USH2A c.13133C>T variant is predicted to result in the amino acid substitution p.Pro4378Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of African descent in gnomAD, which may be to common to be a primary cause of disease. Although we suspect that this variant may benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jan 19, 2025