NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 14, 2019
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:: RCV001009307.1

Allele description [Variation Report for NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)]

NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)

HGVS:

NC_000001.11:g.215759670_215759677del
NG_009497.1:g.668722_668729del
NG_009497.2:g.668774_668781del
NM_206933.4:c.11216_11223delMANE SELECT
NP_996816.3:p.Leu3739fs
NC_000001.10:g.215933012_215933019del
NM_206933.2:c.11216_11223delTGGAGCCC

Protein change:

L3739fs

Links:

dbSNP: rs1571657777

NCBI 1000 Genomes Browser:

rs1571657777

Molecular consequence:

NM_206933.4:c.11216_11223del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001169130	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 14, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001169130

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 14, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001169130.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.11216_11223delTGGAGCCC variant in the USH2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Leucine 3739, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu3739GlnfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This frameshift variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.11216_11223delTGGAGCCC as a pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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