NM_206933.4(USH2A):c.12612= (p.Thr4204=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 13, 2011
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:: RCV000152568.5

Allele description [Variation Report for NM_206933.4(USH2A):c.12612= (p.Thr4204=)]

NM_206933.4(USH2A):c.12612= (p.Thr4204=)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12612= (p.Thr4204=)

Other names:

p.T4204T:ACG>ACA

HGVS:

NC_000001.11:g.215675299=
NG_009497.2:g.753150=
NM_206933.4:c.12612=MANE SELECT
NP_996816.3:p.Thr4204=
NC_000001.10:g.215848641=
NC_000001.10:g.215848641T=
NG_009497.1:g.753098G>A
NM_206933.2:c.12612G>A

Links:

dbSNP: rs2797235

NCBI 1000 Genomes Browser:

rs2797235

Molecular consequence:

NM_206933.4:c.12612= - no sequence alteration - [Sequence Ontology: SO:0002073]

Observations:

128

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000169767	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jul 13, 2011)	germline	clinical testing	Citation Link,
SCV000201818	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Feb 19, 2008)	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

SCV000169767

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jul 13, 2011)

germline

clinical testing

Citation Link,

SCV000201818

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Feb 19, 2008)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	130	128	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 GeneDx, SCV000169767.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000201818.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	130	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	not provided	not provided	not provided	not provided		130	not provided	128	not provided

Last Updated: Feb 28, 2024

ClinVar

Relating variation to medicine