NM_206933.4(USH2A):c.2256T>C (p.His752=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 7, 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:: RCV000041810.22

Allele description [Variation Report for NM_206933.4(USH2A):c.2256T>C (p.His752=)]

NM_206933.4(USH2A):c.2256T>C (p.His752=)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.2256T>C (p.His752=)

HGVS:

NC_000001.11:g.216247138A>G
NG_009497.2:g.181311T>C
NM_007123.6:c.2256T>C
NM_206933.4:c.2256T>CMANE SELECT
NP_009054.6:p.His752=
NP_996816.3:p.His752=
NC_000001.10:g.216420480A>G
NG_009497.1:g.181259T>C
NM_007123.5:c.2256T>C
NM_206933.2:c.2256T>C
NM_206933.3:c.2256T>C
c.2256T>C
p.His752His

Links:

dbSNP: rs111033281

NCBI 1000 Genomes Browser:

rs111033281

Molecular consequence:

NM_007123.6:c.2256T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_206933.4:c.2256T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000065506	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Apr 10, 2012)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14970843, 15325563, 16098008, 10775529, 12427073, 24033266
SCV000225953	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Apr 7, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 14970843, 18273898, 22004887, 25649381 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000065506

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Apr 10, 2012)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV000225953

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Apr 7, 2015)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	5	3	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	6	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP.

Exp Eye Res. 2004 Aug;79(2):167-73.

PubMed [citation]

PMID:: 15325563

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

Bernal S, Medà C, Solans T, Ayuso C, Garcia-Sandoval B, Valverde D, Del Rio E, Baiget M.

Clin Genet. 2005 Sep;68(3):204-14.

PubMed [citation]

PMID:: 16098008

See all PubMed Citations (9)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065506.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (6)

Description

The His752His variant in USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, and is commonly reported in cis with the pathogenic Cys759Phe variant (Rivolta 2002, Rivolta 2000, Aller 2004, Bernal 2005, Seyedahmadi 2004) . In addition, this variant has been identified in 0.2% (13/7020) of European Am erican chromosomes and 0.03% (1/3738) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/ EVS/; dbSNP rs111033281).

#	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		5	not provided	3	not provided

From Eurofins Ntd Llc (ga), SCV000225953.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	PubMed (4)

#	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		6	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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