NM_206933.4(USH2A):c.848+5G>C AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 1, 2011
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:: RCV000041928.5

Allele description [Variation Report for NM_206933.4(USH2A):c.848+5G>C]

NM_206933.4(USH2A):c.848+5G>C

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.848+5G>C

HGVS:

NC_000001.11:g.216327586C>G
NG_009497.2:g.100863G>C
NM_007123.6:c.848+5G>C
NM_206933.4:c.848+5G>CMANE SELECT
NC_000001.10:g.216500928C>G
NG_009497.1:g.100811G>C
NM_007123.5:c.848+5G>C
NM_206933.2:c.848+5G>C
NM_206933.3:c.848+5G>C
c.848+5G>C

Links:

dbSNP: rs74329863

NCBI 1000 Genomes Browser:

rs74329863

Molecular consequence:

NM_007123.6:c.848+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_206933.4:c.848+5G>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000065624	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Feb 1, 2011)	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

SCV000065624

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Feb 1, 2011)

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	17	17	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, SCV000065624.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	17	not provided	not provided	clinical testing	PubMed (1)

Description

848+5G>C in intron 5 of USH2A: This variant is not expected to have clinical sig nificance because it has been identified with a frequency of 3.4% in the East As ian population (208 chromosomes) and a frequency of 2.5% in the West African pop ulation (118 chromosomes) (rs74329863). In addition, this variant has been ident ified in 2/15 (13/3%) of Asian individuals tested by our laboratory, one of whic h is homozygous for a pathogenic MYO7A variant. Furthermore, the 848+5G>C varian t is located in the 5' splice region but does not affect the invariant +1 and +2 positions.

#	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		17	not provided	17	not provided

Last Updated: Jun 22, 2025

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