NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) AND Hypophosphatemic rickets, X-linked recessive

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 1, 1997
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:: RCV000012570.26

Allele description [Variation Report for NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)]

NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)

Gene:

CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)

HGVS:

NC_000023.11:g.50085987C>T
NG_007159.3:g.168372C>T
NM_000084.5:c.731C>T
NM_001127898.4:c.941C>TMANE SELECT
NM_001127899.4:c.941C>T
NM_001282163.2:c.791C>T
NP_000075.1:p.Ser244Leu
NP_001121370.1:p.Ser314Leu
NP_001121371.1:p.Ser314Leu
NP_001269092.1:p.Ser264Leu
NC_000023.10:g.49850644C>T
NM_000084.2:c.731C>T
NM_000084.4:c.731C>T
P51795:p.Ser244Leu
p.S244L

Protein change:

S244L; SER244LEU

Links:

UniProtKB: P51795#VAR_001618; OMIM: 300008.0007; dbSNP: rs151340626

NCBI 1000 Genomes Browser:

rs151340626

Molecular consequence:

NM_000084.5:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127898.4:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127899.4:c.941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282163.2:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypophosphatemic rickets, X-linked recessive (XLHRR)
Synonyms:: Rickets, hypophosphataemic
Identifiers:: MONDO: MONDO:0010358; MedGen: C1845168; Orphanet: 1652; Orphanet: 93622; OMIM: 300554

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032804	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1997)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 7915957, 9187673, 8559248
SCV000055644	GeneReviews	no classification provided	not provided	unknown	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

SCV000032804

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1997)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000055644

GeneReviews

no classification provided

not provided

unknown

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	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G.

Eur J Hum Genet. 1993;1(4):269-79.

PubMed [citation]

PMID:: 7915957

A second family with XLRH displays the mutation S244L in the CLCN5 gene.

Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A.

Hum Genet. 1997 Jun;99(6):781-4.

PubMed [citation]

PMID:: 9187673

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000032804.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In affected members of an Italian family with X-linked recessive hypophosphatemic rickets (XLHRR; 300554) reported by Bolino et al. (1993), Lloyd et al. (1996) identified a C-to-T transition in the CLCN5 gene, resulting in a ser244-to-leu (S244L) substitution. The mutation was predicted to disrupt a helix in D5. Functional expression studies showed that the mutant S244L channel had reduced, but not abolished, chloride conductance.

Oudet et al. (1997) reported a second family with the S244L mutation but with a milder phenotype than that in the family reported by Lloyd et al. (1996). The family reported by Oudet et al. (1997) had neither nephrocalcinosis nor nephrolithiasis. However, the affected individuals were significantly younger than those of the family reported by Lloyd et al. (1996).

#	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

From GeneReviews, SCV000055644.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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