NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) AND Familial X-linked hypophosphatemic vitamin D refractory rickets

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 12, 2017
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:: RCV000505438.5

Allele description [Variation Report for NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)]

NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)

Genes:

PTCHD1-AS:PTCHD1 antisense RNA (head to head) [Gene - HGNC]
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.2198G>C (p.Cys733Ser)

HGVS:

NC_000023.11:g.22247901G>C
NG_007563.2:g.220098G>C
NM_000444.6:c.2198G>CMANE SELECT
NM_001282754.2:c.*33G>C
NP_000435.3:p.Cys733Ser
NC_000023.10:g.22266018G>C

Protein change:

C733S

Links:

dbSNP: rs1057517981

NCBI 1000 Genomes Browser:

rs1057517981

Molecular consequence:

NM_001282754.2:c.*33G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000444.6:c.2198G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHRD)
Synonyms:: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; Hypophosphatemic Rickets, X-Linked Dominant; Hypophosphatemia, vitamin D-resistant rickets; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010619; MedGen: C0733682; Orphanet: 89936; OMIM: 307800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599606	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jun 12, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599606

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jun 12, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs MJ, Oudet C.

Eur J Hum Genet. 1999 Jul;7(5):615-9.

PubMed [citation]

PMID:: 10439971

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000599606.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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