NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2020
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:: RCV001945553.4

Allele description [Variation Report for NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs)]

NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs)

HGVS:

NC_000001.11:g.215640687_215640688del
NG_009497.2:g.787761_787762del
NM_206933.4:c.14838_14839delMANE SELECT
NP_996816.3:p.Val4949fs
NC_000001.10:g.215814029_215814030del
NG_009497.1:g.787709_787710del

Protein change:

V4949fs

Links:

dbSNP: rs2102636059

NCBI 1000 Genomes Browser:

rs2102636059

Molecular consequence:

NM_206933.4:c.14838_14839del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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tRNA (cytosine(38)-C(5))-methyltransferase isoform g [Homo sapiens]
tRNA (cytosine(38)-C(5))-methyltransferase isoform g [Homo sapiens]
gi|1005261142|ref|NP_001307936.1|

Protein
Arabidopsis thaliana Receptor-like protein kinase-related family protein (AT1G63...
Arabidopsis thaliana Receptor-like protein kinase-related family protein (AT1G63580), mRNA
gi|1063690922|ref|NM_105036.2|

Nucleotide
daa27h04.x1 NICHD_XGC_Lu1 Xenopus laevis cDNA clone IMAGE:4057590 3', mRNA seque...
daa27h04.x1 NICHD_XGC_Lu1 Xenopus laevis cDNA clone IMAGE:4057590 3', mRNA sequence
gi|12747598|gnl|dbEST|7838320|gb|BG 2.1|

Nucleotide
Nucleic Acid Synthesis Inhibitors [Pharmacological Action]
Nucleic Acid Synthesis Inhibitors [Pharmacological Action]

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002191884	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 30, 2020)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 10729113, 10909849, 20507924, 25649381, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002191884

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 30, 2020)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ.

Am J Hum Genet. 2000 Apr;66(4):1199-210. Epub 2000 Mar 22. Erratum in: Am J Hum Genet 2000 Jun;66(6):2020. Greenburg J [corrected to Greenberg J].

PubMed [citation]

PMID:: 10729113
PMCID:: PMC1288187

Identification of novel USH2A mutations: implications for the structure of USH2A protein.

Dreyer B, Tranebjaerg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen O.

Eur J Hum Genet. 2000 Jul;8(7):500-6.

PubMed [citation]

PMID:: 10909849

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002191884.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val4949Glufs*4) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).

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

Last Updated: Sep 29, 2024

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