NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) AND Hearing impairment

Germline classification:: no classifications from unflagged records (2 submissions)
Last evaluated:: Dec 1, 2023
Review status:: no classifications from unflagged records

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:: RCV000754555.11

Allele description [Variation Report for NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)]

NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)

Genes:

LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)

Other names:

NM_206933.2(USH2A):c.2522C>A

HGVS:

NC_000001.11:g.216246872G>T
NG_009497.2:g.181577C>A
NG_076570.1:g.246G>T
NM_007123.6:c.2522C>A
NM_206933.4:c.2522C>AMANE SELECT
NP_009054.5:p.Ser841Tyr
NP_009054.6:p.Ser841Tyr
NP_996816.2:p.Ser841Tyr
NP_996816.3:p.Ser841Tyr
NC_000001.10:g.216420214G>T
NG_009497.1:g.181525C>A
NM_007123.5:c.2522C>A
NM_206933.2:c.2522C>A
NM_206933.3:c.2522C>A
O75445:p.Ser841Tyr
c.2522C>A

Protein change:

S841Y

Links:

UniProtKB: O75445#VAR_025777; dbSNP: rs111033282

NCBI 1000 Genomes Browser:

rs111033282

Molecular consequence:

NM_007123.6:c.2522C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.2522C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hearing impairment
Identifiers:: MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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No clinical assertions found. See "Flagged submissions" below.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM.

Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.

PubMed [citation]

PMID:: 30872814
PMCID:: PMC6777543

Details of each submission

From Center for Statistical Genetics, Columbia University, SCV000853293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

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

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439133.1

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

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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000853293	Center for Statistical Genetics, Columbia University	flagged submission Reason: Conflicts with expert reviewed submission without evidence to support different classification Notes: None	Uncertain significance (Oct 8, 2018)	germline	research
SCV001439133	University of Washington Center for Mendelian Genomics, University of Washington	flagged submission Reason: Conflicts with expert reviewed submission without evidence to support different classification Notes: None	Uncertain significance	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000853293

Center for Statistical Genetics, Columbia University

flagged submission

Reason: Conflicts with expert reviewed submission without evidence to support different classification

Notes: None

Uncertain significance
(Oct 8, 2018)

germline

research

SCV001439133

University of Washington Center for Mendelian Genomics, University of Washington

flagged submission

Reason: Conflicts with expert reviewed submission without evidence to support different classification

Notes: None

Uncertain significance

inherited

research

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

Last Updated: Nov 3, 2024

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