NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) AND Lesch-Nyhan syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1989
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:: RCV000010734.3

Allele description [Variation Report for NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)]

NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)

Gene:

HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.2

Genomic location:

Preferred name:

NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)

HGVS:

NC_000023.11:g.134490192T>A
NG_012329.1:g.35048T>A
NG_012329.2:g.35048T>A
NM_000194.3:c.389T>AMANE SELECT
NP_000185.1:p.Val130Asp
NC_000023.10:g.133624222T>A
P00492:p.Val130Asp

Protein change:

V130D; VAL130ASP

Links:

UniProtKB: P00492#VAR_006780; OMIM: 308000.0012; dbSNP: rs137852483

NCBI 1000 Genomes Browser:

rs137852483

Molecular consequence:

NM_000194.3:c.389T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lesch-Nyhan syndrome (LNS)
Identifiers:: MONDO: MONDO:0010298; MedGen: C0023374; Orphanet: 510; OMIM: 300322

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030960	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1989)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3384338, 2928313

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030960

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1989)

germline

literature only

PubMed (2)
[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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).

Davidson BL, Pashmforoush M, Kelley WN, Palella TD.

Gene. 1988 Mar 31;63(2):331-6.

PubMed [citation]

PMID:: 3384338

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.

Proc Natl Acad Sci U S A. 1989 Mar;86(6):1919-23.

PubMed [citation]

PMID:: 2928313
PMCID:: PMC286816

Details of each submission

From OMIM, SCV000030960.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with Lesch-Nyhan syndrome (300322), Davidson et al. (1988) and Gibbs et al. (1989) found a T-to-A change resulting in substitution of aspartic acid for valine-130.

#	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: Apr 23, 2022

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