NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) AND Rod-cone dystrophy

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Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 11, 2021
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:: RCV001806999.3

Allele description

NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)

HGVS:

NC_000001.11:g.215728232C>T
NG_009497.2:g.700217G>A
NM_206933.4:c.11864G>AMANE SELECT
NP_996816.3:p.Trp3955Ter
NC_000001.10:g.215901574C>T
NG_009497.1:g.700165G>A
NM_206933.2:c.11864G>A
NM_206933.3:c.11864G>A
c.11864G>A
p.Trp3955X

Protein change:

W3955*; TRP3955TER

Links:

OMIM: 608400.0007; dbSNP: rs111033364

NCBI 1000 Genomes Browser:

rs111033364

Molecular consequence:

NM_206933.4:c.11864G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Rod-cone dystrophy
Identifiers:: MedGen: C4551714; Human Phenotype Ontology: HP:0000510

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002054109	Institute of Human Genetics, University Hospital Muenster	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 11, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002054109

Institute of Human Genetics, University Hospital Muenster

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 11, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University Hospital Muenster, SCV002054109.1

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

Description

ACMG categories: PVS1,PM2,PM3,PP3,PP5

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

Last Updated: Jun 29, 2024

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