NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 2, 2015
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:: RCV000221966.4

Allele description [Variation Report for NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)]

NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)

HGVS:

NC_000001.11:g.215675351C>A
NG_009497.2:g.753098G>T
NM_206933.4:c.12560G>TMANE SELECT
NP_996816.3:p.Arg4187Leu
NC_000001.10:g.215848693C>A
NG_009497.1:g.753046G>T
NM_206933.2:c.12560G>T

Protein change:

R4187L

Links:

dbSNP: rs147304271

NCBI 1000 Genomes Browser:

rs147304271

Molecular consequence:

NM_206933.4:c.12560G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000272888	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Mar 2, 2015)	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

SCV000272888

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Mar 2, 2015)

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	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000272888.3

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

Description

The p.Arg4187Leu variant in USH2A has not been previously reported in individual s with hearing loss. This variant has been identified in 1/11530 Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147304271. Although this variant has been seen in the general populatio n, its frequency is not high enough to rule out a pathogenic role. Computationa l prediction tools and conservation analyses do not provide strong support for o r against an impact to the protein. In summary, the clinical significance of the p.Arg4187Leu variant is uncertain.

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

Last Updated: Sep 29, 2024

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