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NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) AND USH2A-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 23, 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:
RCV004732988.1

Allele description [Variation Report for NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)]

NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
HGVS:
  • NC_000001.11:g.215674133G>A
  • NG_009497.2:g.754316C>T
  • NM_206933.4:c.13778C>TMANE SELECT
  • NP_996816.3:p.Ser4593Leu
  • NC_000001.10:g.215847475G>A
  • NG_009497.1:g.754264C>T
  • NM_206933.2:c.13778C>T
Protein change:
S4593L
Links:
dbSNP: rs1202573136
NCBI 1000 Genomes Browser:
rs1202573136
Molecular consequence:
  • NM_206933.4:c.13778C>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
SCV005355388PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Aug 23, 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, SCV005355388.1

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

Description

The USH2A c.13778C>T variant is predicted to result in the amino acid substitution p.Ser4593Leu. This variant was reported in an individual with Usher syndrome along with a second variant in the same gene (Table S5, Ellingford et al 2016. PubMed ID: 27208204). This variant has not been reported in a large population database , indicating this variant is rare. 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: Oct 13, 2024