U.S. flag

An official website of the United States government

NM_173477.5(USH1G):c.644del (p.Lys215fs) AND Usher syndrome type 1G

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 2018
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:
RCV000778514.4

Allele description [Variation Report for NM_173477.5(USH1G):c.644del (p.Lys215fs)]

NM_173477.5(USH1G):c.644del (p.Lys215fs)

Gene:
USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_173477.5(USH1G):c.644del (p.Lys215fs)
HGVS:
  • NC_000017.11:g.74920193del
  • NG_007882.2:g.8072del
  • NG_033062.2:g.919del
  • NM_001282489.3:c.335del
  • NM_173477.5:c.644delMANE SELECT
  • NP_001269418.1:p.Lys112fs
  • NP_775748.2:p.Lys215fs
  • LRG_1416t1:c.644del
  • LRG_1416:g.8072del
  • LRG_1416p1:p.Lys215fs
  • NC_000017.10:g.72916288del
  • NG_033062.1:g.919del
  • NM_173477.2:c.644delA
Protein change:
K112fs
Links:
dbSNP: rs1567940040
NCBI 1000 Genomes Browser:
rs1567940040
Molecular consequence:
  • NM_001282489.3:c.335del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173477.5:c.644del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Usher syndrome type 1G
Synonyms:
USHER SYNDROME, TYPE IG, MILD
Identifiers:
MONDO: MONDO:0011748; MedGen: C1847089; Orphanet: 231169; Orphanet: 886; OMIM: 606943

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000914792Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)
Uncertain significance
(Nov 22, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000914792.1

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

Description

The USH1G c.644delA (p.Lys215ArgfsTer39) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium or the Genome Aggregation Database in a region of good sequencing coverage. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Lys215ArgfsTer39 variant is classified as a variant of unknown significance but suspicious for pathogenicity for Usher syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Apr 9, 2023