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NM_000194.3(HPRT1):c.212del (p.Gly71fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003041482.2

Allele description

NM_000194.3(HPRT1):c.212del (p.Gly71fs)

Gene:
HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq26.2
Genomic location:
Preferred name:
NM_000194.3(HPRT1):c.212del (p.Gly71fs)
HGVS:
  • NC_000023.11:g.134475258del
  • NG_012329.2:g.20114del
  • NM_000194.3:c.212delMANE SELECT
  • NP_000185.1:p.Gly71fs
  • NC_000023.10:g.133609283del
  • NC_000023.10:g.133609288del
Protein change:
G71fs
Molecular consequence:
  • NM_000194.3:c.212del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Synonyms:
GOUT, HPRT-RELATED; HPRT DEFICIENCY, PARTIAL; HPRT1 DEFICIENCY, PARTIAL; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010299; MedGen: C0268117; Orphanet: 79233; OMIM: 300323
Name:
Lesch-Nyhan syndrome (LNS)
Identifiers:
MONDO: MONDO:0010298; MedGen: C0023374; Orphanet: 510; OMIM: 300322

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003445779Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 12, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA; Lesch-Nyhan Disease International Study Group..

Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22. Review.

PubMed [citation]
PMID:
23975452
PMCID:
PMC3999711

The spectrum of mutations causing HPRT deficiency: an update.

Jinnah HA, Harris JC, Nyhan WL, O'Neill JP.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1153-60.

PubMed [citation]
PMID:
15571220
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV003445779.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Lesch-Nyhan disease (PMID: 23975452). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly71Alafs*15) in the HPRT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPRT1 are known to be pathogenic (PMID: 15571220, 17027311, 22157001).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024