NM_206933.4(USH2A):c.8714dup (p.His2905fs) AND Usher syndrome type 2A

Germline classification:: Pathogenic (1 submission)
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:: RCV001823266.1

Allele description [Variation Report for NM_206933.4(USH2A):c.8714dup (p.His2905fs)]

NM_206933.4(USH2A):c.8714dup (p.His2905fs)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.8714dup (p.His2905fs)

HGVS:

NC_000001.11:g.215867138dup
NG_009497.2:g.561311dup
NM_206933.4:c.8714dupMANE SELECT
NP_996816.3:p.His2905fs
NC_000001.10:g.216040480dup
NG_009497.1:g.561259dup

Protein change:

H2905fs

Links:

dbSNP: rs2102440764

NCBI 1000 Genomes Browser:

rs2102440764

Molecular consequence:

NM_206933.4:c.8714dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Usher syndrome type 2A
Synonyms:: USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:: MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001763628	Deafness Molecular Diagnostic Center, Chinese PLA General Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic	maternal	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001763628

Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic

maternal

case-control

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	case-control

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 Deafness Molecular Diagnostic Center, Chinese PLA General Hospital, SCV001763628.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)

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

Last Updated: Dec 24, 2023

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