NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) AND HPRT EVANSVILLE

Germline classification:: other (1 submission)
Last evaluated:: Sep 26, 2017
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:: RCV000010725.3

Allele description [Variation Report for NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs)]

NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs)

HGVS:

NC_000023.11:g.134500064_134500084del
NG_012329.1:g.44920_44940del
NG_012329.2:g.44920_44940del
NM_000194.3:c.644_*7delMANE SELECT
NP_000185.1:p.Lys215_Ter219delinsXaa
NP_000185.1:p.Lys215fs
NC_000023.10:g.133634094_133634114del
NG_012329.1:g.44919_44939del

Links:

OMIM: 308000.0007; dbSNP: rs387906428

NCBI 1000 Genomes Browser:

rs387906428

Molecular consequence:

NM_000194.3:c.644_*7del - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:: HPRT EVANSVILLE
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030951	OMIM	no assertion criteria provided	other (Sep 26, 2017)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 2738157, 2347587

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030951

OMIM

no assertion criteria provided

other
(Sep 26, 2017)

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

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

Davidson BL, Tarlé SA, Palella TD, Kelley WN.

J Clin Invest. 1989 Jul;84(1):342-6.

PubMed [citation]

PMID:: 2738157
PMCID:: PMC303988

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, SCV000030951.2

#	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 LNS (300322), Davidson et al. (1989) found an HPRT protein abnormally long by 24 amino acids, resulting from change in nucleotides 643 to 663 which code for the last 4 amino acids and the stop codon. This mutation was also reported by Gibbs et al. (1990) in cell line RJK894. (RJK = Robert J. Kleberg, a major benefactor of the Institute of Medical Genetics at Baylor College of Medicine.)

#	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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