NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) AND Usher syndrome type 2A

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 4, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001810480.11

Allele description [Variation Report for NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)]

NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)

HGVS:

NC_000001.11:g.215671088A>G
NG_009497.2:g.757361T>C
NM_206933.4:c.14017T>CMANE SELECT
NP_996816.3:p.Tyr4673His
NC_000001.10:g.215844430A>G
NG_009497.1:g.757309T>C
NM_206933.2:c.14017T>C

Protein change:

Y4673H

Links:

dbSNP: rs1040917329

NCBI 1000 Genomes Browser:

rs1040917329

Molecular consequence:

NM_206933.4:c.14017T>C - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002060331	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Uncertain significance (Oct 1, 2021)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 26992781, 25373420, 26927203, 23967202, 24853665 Citation Link,
SCV004183109	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 4, 2023)	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

SCV002060331

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Uncertain significance
(Oct 1, 2021)

unknown

clinical testing

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

Citation Link,

SCV004183109

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 4, 2023)

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

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

Exp Eye Res. 2016 May;146:252-258. doi: 10.1016/j.exer.2016.03.015. Epub 2016 Mar 16.

PubMed [citation]

PMID:: 26992781

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.

Park JH, Kim NK, Kim AR, Rhee J, Oh SH, Koo JW, Nam JY, Park WY, Choi BY.

Orphanet J Rare Dis. 2014 Nov 6;9:167. doi: 10.1186/s13023-014-0167-8.

PubMed [citation]

PMID:: 25373420
PMCID:: PMC4243193

See all PubMed Citations (6)

Details of each submission

From Myriad Genetics, Inc., SCV002060331.2

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

Description

NM_206933.2(USH2A):c.14017T>C(Y4673H) is a missense variant classified as a variant of uncertain significance in the context of USH2A-related disorders. Y4673H has been observed in cases with relevant disease (PMID: 26992781, 25373420, 24853665, 26927203, 23967202). Functional assessments of this variant are not available in the literature. Y4673H has been observed in population frequency databases (gnomAD: EAS 0.02%). In summary, there is insufficient evidence to classify NM_206933.2(USH2A):c.14017T>C(Y4673H) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

#	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

From Genome-Nilou Lab, SCV004183109.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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