NM_000194.3(HPRT1):c.160_199del (p.Met54fs) AND Lesch-Nyhan syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1990
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:: RCV000010753.2

Allele description [Variation Report for NM_000194.3(HPRT1):c.160_199del (p.Met54fs)]

NM_000194.3(HPRT1):c.160_199del (p.Met54fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq26.2

Genomic location:

Preferred name:

NM_000194.3(HPRT1):c.160_199del (p.Met54fs)

HGVS:

NC_000023.11:g.134475206_134475245del
NG_012329.2:g.20062_20101del
NM_000194.3:c.160_199delMANE SELECT
NP_000185.1:p.Met54fs
NC_000023.10:g.133609236_133609275del

Protein change:

M54fs

Links:

OMIM: 308000.0028

Molecular consequence:

NM_000194.3:c.160_199del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000030979	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1990)	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

SCV000030979

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1990)

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

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.

Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT.

Genomics. 1990 Jun;7(2):235-44.

PubMed [citation]

PMID:: 2347587

Details of each submission

From OMIM, SCV000030979.1

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

Description

In cell line RJK2108 from a patient with LNS (300322), Gibbs et al. (1990) found deletion of 40 nucleotides resulting in a frameshift.

#	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 10, 2022

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