NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 12, 2015
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:: RCV000041725.14

Allele description [Variation Report for NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)]

NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)

HGVS:

NC_000001.11:g.215675303T>C
NG_009497.2:g.753146A>G
NM_206933.4:c.12608A>GMANE SELECT
NP_996816.3:p.Gln4203Arg
NC_000001.10:g.215848645T>C
NG_009497.1:g.753094A>G
NM_206933.2:c.12608A>G
O75445:p.Gln4203Arg
c.12608A>G

Protein change:

Q4203R

Links:

UniProtKB: O75445#VAR_066665; dbSNP: rs148556640

NCBI 1000 Genomes Browser:

rs148556640

Molecular consequence:

NM_206933.4:c.12608A>G - 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
SCV000065421	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Sep 11, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000231906	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jan 12, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000065421

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Sep 11, 2012)

germline

clinical testing

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

SCV000231906

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jan 12, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	3	3	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, SCV000065421.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (1)

Description

Gln4203Arg in exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it is has been identified in 3.4% (6/178) of Asian chromosome s in a broad population by the 1000 Genomes Project. (http://www.ncbi.nlm.nih.go v/variation/tools/1000genomes/; dbSNP rs148556640).

#	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		3	not provided	3	not provided

From Eurofins Ntd Llc (ga), SCV000231906.5

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

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

Last Updated: Oct 20, 2024

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