NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) AND Retinitis pigmentosa 39

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 8, 2021
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:: RCV000675140.6

Allele description [Variation Report for NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)]

NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)

HGVS:

NC_000001.11:g.215675336C>T
NG_009497.2:g.753113G>A
NM_206933.3:c.12575G>A
NM_206933.4:c.12575G>AMANE SELECT
NP_996816.3:p.Arg4192His
NC_000001.10:g.215848678C>T
NG_009497.1:g.753061G>A
NM_206933.2:c.12575G>A
NM_206933.3(USH2A):c.12575G>A
NM_206933.4:c.12575G>A
O75445:p.Arg4192His

Protein change:

R4192H

Links:

UniProtKB: O75445#VAR_068358; dbSNP: rs199605265

NCBI 1000 Genomes Browser:

rs199605265

Molecular consequence:

NM_206933.4:c.12575G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 39 (RP39)
Identifiers:: MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

Recent activity

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RecName: Full=OV-16 antigen; Flags: Precursor
RecName: Full=OV-16 antigen; Flags: Precursor
gi|1709506|sp|P31729.2|OV16_ONCVO

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800729	Counsyl	no assertion criteria provided	Uncertain significance (May 7, 2019)	unknown	clinical testing	PubMed (16) [See all records that cite these PMIDs] 27208204, 30543658, 27160483, 26806561, 25412400, 22135276, 25649381, 27596865, 28157192, 21151602, 28894305, 23991284, 20507924, 22334370, 26927203, 23591405
SCV001520107	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 8, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001573312	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 8, 2021)	germline	research	PubMed (14) [See all records that cite these PMIDs] 28041643, 27596865, 26927203, 26806561, 25649381, 23591405, 23991284, 22334370, 22135276, 21151602, 20507924, 28559085, 27160483, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800729

Counsyl

no assertion criteria provided

Uncertain significance
(May 7, 2019)

unknown

clinical testing

PubMed (16)
[See all records that cite these PMIDs]

SCV001520107

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 8, 2019)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001573312

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 8, 2021)

germline

research

PubMed (14)
[See all records that cite these PMIDs]

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	research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GCM.

J Med Genet. 2016 Nov;53(11):761-767. doi: 10.1136/jmedgenet-2016-103837. Epub 2016 May 11.

PubMed [citation]

PMID:: 27208204
PMCID:: PMC5106339

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P.

PLoS One. 2018;13(12):e0207958. doi: 10.1371/journal.pone.0207958.

PubMed [citation]

PMID:: 30543658
PMCID:: PMC6292620

See all PubMed Citations (19)

Details of each submission

From Counsyl, SCV000800729.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (16)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV001520107.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573312.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (14)

Description

The USH2A c.12575G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS1, PM2, PM3, PP1, PP3. Based on this evidence we have classified this variant as Pathogenic.

#	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

Last Updated: Nov 3, 2024

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