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NM_000444.6(PHEX):c.1531A>T (p.Lys511Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 21, 2020
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:
RCV001384980.5

Allele description [Variation Report for NM_000444.6(PHEX):c.1531A>T (p.Lys511Ter)]

NM_000444.6(PHEX):c.1531A>T (p.Lys511Ter)

Gene:
PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.11
Genomic location:
Preferred name:
NM_000444.6(PHEX):c.1531A>T (p.Lys511Ter)
HGVS:
  • NC_000023.11:g.22178321A>T
  • NG_007563.2:g.150518A>T
  • NM_000444.6:c.1531A>TMANE SELECT
  • NM_001282754.2:c.1531A>T
  • NP_000435.3:p.Lys511Ter
  • NP_001269683.1:p.Lys511Ter
  • NC_000023.10:g.22196438A>T
Protein change:
K511*
Links:
dbSNP: rs753522380
NCBI 1000 Genomes Browser:
rs753522380
Molecular consequence:
  • NM_000444.6:c.1531A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282754.2:c.1531A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001584687Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 21, 2020) 		germlineclinical testing

PubMed (4)
[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

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL.

Hum Mol Genet. 1997 Apr;6(4):539-49.

PubMed [citation]
PMID:
9097956

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

Holm IA, Huang X, Kunkel LM.

Am J Hum Genet. 1997 Apr;60(4):790-7.

PubMed [citation]
PMID:
9106524
PMCID:
PMC1712471
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001584687.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant has not been reported in the literature in individuals with PHEX-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys511*) in the PHEX gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Feb 20, 2024