NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 20, 2017
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:: RCV000601054.4

Allele description [Variation Report for NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)]

NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)

HGVS:

NC_000001.11:g.215728368C>G
NG_009497.2:g.700081G>C
NM_206933.4:c.11728G>CMANE SELECT
NP_996816.3:p.Glu3910Gln
NC_000001.10:g.215901710C>G
NG_009497.1:g.700029G>C
NM_206933.2:c.11728G>C

Protein change:

E3910Q

Links:

dbSNP: rs1436435041

NCBI 1000 Genomes Browser:

rs1436435041

Molecular consequence:

NM_206933.4:c.11728G>C - 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
SCV000713102	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Apr 20, 2017)	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

SCV000713102

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Apr 20, 2017)

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, SCV000713102.2

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

Description

The p.Glu3910Gln variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome and was absent from large population studi es. Glutamic acid (Glu) at position 3910 is not conserved in mammals or evolutio narily distant species raising the possibility that this change may be tolerated . Additional computational prediction tools suggest that the p.Glu3910Gln varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, the clinical significance of the Glu3910Gl n 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: Dec 30, 2023

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