NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 23, 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:: RCV000674697.1

Allele description [Variation Report for NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)]

NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)

Genes:

USH2A-AS2:USH2A antisense RNA 2 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)

HGVS:

NC_000001.11:g.216084814G>A
NG_009497.2:g.343635C>T
NM_206933.4:c.5051C>TMANE SELECT
NP_996816.3:p.Pro1684Leu
NC_000001.10:g.216258156G>A
NG_009497.1:g.343583C>T
NM_206933.2:c.5051C>T

Protein change:

P1684L

Links:

dbSNP: rs771088957

NCBI 1000 Genomes Browser:

rs771088957

Molecular consequence:

NM_206933.4:c.5051C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Name:: Retinitis pigmentosa 39 (RP39)
Identifiers:: MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800083	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 23, 2018)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25388789, 26747767 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800083

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(May 23, 2018)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G.

J Transl Med. 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1.

PubMed [citation]

PMID:: 25388789
PMCID:: PMC4234825

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W, Huang L, Xu Y, Xiao X, Li S, Jia X, Gao B, Wang P, Guo X, Zhang Q.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8365-72. doi: 10.1167/iovs.15-17555.

PubMed [citation]

PMID:: 26747767

Details of each submission

From Counsyl, SCV000800083.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Nov 24, 2024

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