NM_206933.4(USH2A):c.12050A>G (p.His4017Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 2022
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:: RCV002921081.2

Allele description [Variation Report for NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)]

NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)

HGVS:

NC_000001.11:g.215728046T>C
NG_009497.2:g.700403A>G
NM_206933.4:c.12050A>GMANE SELECT
NP_996816.3:p.His4017Arg
NC_000001.10:g.215901388T>C
NM_206933.2:c.12050A>G

Protein change:

H4017R

Molecular consequence:

NM_206933.4:c.12050A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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Cupriavidus necator A5-1 K307DRAFT_scf7180000000046_quiver.4_C, whole genome shotgun sequence
gi|757644052|ref|NZ_JQLI01000004.1| WGS:NZ_JQLI01|K307DRAFT_scf7180000000046_quiver.4_C

Nucleotide
Adiantum wilsonii (1)
Taxonomy
Rattus norvegicus ubiquitin specific peptidase 11, mRNA (cDNA clone IMAGE:731423...
Rattus norvegicus ubiquitin specific peptidase 11, mRNA (cDNA clone IMAGE:7314230), partial cds
gi|114205509|gb|BC105613.1|

Nucleotide
Chromosome neighbors for GEO Profiles (Select 129803447) (20)
GEO Profiles
Early Parkinson's disease: peripheral blood
Early Parkinson's disease: peripheral blood
Accession: GDS5646

GEO DataSets

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003660552	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003660552

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 17, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003660552.2

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

Description

The c.12050A>G (p.H4017R) alteration is located in exon 61 (coding exon 60) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 12050, causing the histidine (H) at amino acid position 4017 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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