NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile) AND Retinitis pigmentosa 10

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000015960.25

Allele description [Variation Report for NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)]

NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)

Gene:

IMPDH1:inosine monophosphate dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

Preferred name:

NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile)

HGVS:

NC_000007.14:g.128398431C>T
NG_009194.1:g.16552G>A
NM_000883.4:c.1057G>AMANE SELECT
NM_001102605.2:c.1027G>A
NM_001142573.2:c.802G>A
NM_001142574.2:c.787G>A
NM_001142575.2:c.727G>A
NM_001142576.2:c.958G>A
NM_001304521.2:c.850G>A
NM_183243.3:c.949G>A
NP_000874.2:p.Val353Ile
NP_001096075.1:p.Val343Ile
NP_001136045.1:p.Val268Ile
NP_001136046.1:p.Val263Ile
NP_001136047.1:p.Val243Ile
NP_001136048.1:p.Val320Ile
NP_001291450.1:p.Val284Ile
NP_899066.1:p.Val317Ile
NC_000007.13:g.128038485C>T

Protein change:

V243I; VAL268ILE

Links:

OMIM: 146690.0002; dbSNP: rs121912551

NCBI 1000 Genomes Browser:

rs121912551

Molecular consequence:

NM_000883.4:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001102605.2:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142573.2:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142574.2:c.787G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142575.2:c.727G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001142576.2:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304521.2:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_183243.3:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 10 (RP10)
Identifiers:: MONDO: MONDO:0008379; MedGen: C1867299; Orphanet: 791; OMIM: 180105

Recent activity

Clear Turn Off Turn On

PR domain zinc finger protein 1 isoform X6 [Homo sapiens]
PR domain zinc finger protein 1 isoform X6 [Homo sapiens]
gi|2462610134|ref|XP_054212187.1|

Protein
nucleotide kinase [Staphylococcus phage tp310-2]
nucleotide kinase [Staphylococcus phage tp310-2]
gi|156603973|ref|YP_001429919.1|

Protein
transmembrane protein 108 isoform X1 [Canis lupus familiaris]
transmembrane protein 108 isoform X1 [Canis lupus familiaris]
gi|1953334896|ref|XP_038288280.1|

Protein
Indigofera jamaicensis internal transcribed spacer 1, partial sequence; 5.8S rib...
Indigofera jamaicensis internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|194246013|gb|EU729690.1|

Nucleotide
Indigofera ewartiana internal transcribed spacer 1, partial sequence; 5.8S ribos...
Indigofera ewartiana internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|194246007|gb|EU729684.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036227	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036227

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2002)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Hum Mol Genet. 2002 Mar 1;11(5):559-68.

PubMed [citation]

PMID:: 11875050
PMCID:: PMC2585828

Details of each submission

From OMIM, SCV000036227.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a family with autosomal dominant retinitis pigmentosa linked to 7q (RP10; 180105), Bowne et al. (2002) identified a G-to-A transition at codon 268 of the IMPDH1 gene, substituting an isoleucine for valine (V268I). The mutation was absent among a European control cohort.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine