NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu) AND Intestinal hypomagnesemia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 2, 2004
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:: RCV000003768.4

Allele description [Variation Report for NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu)]

NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu)

Gene:

TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.13

Genomic location:

Preferred name:

NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu)

HGVS:

NC_000009.12:g.74840146G>A
NG_017036.1:g.52949C>T
NM_001177310.2:c.407C>T
NM_001177311.2:c.407C>T
NM_017662.5:c.422C>TMANE SELECT
NP_001170781.1:p.Ser136Leu
NP_001170782.1:p.Ser136Leu
NP_060132.3:p.Ser141Leu
NC_000009.11:g.77455062G>A
Q9BX84:p.Ser141Leu

Protein change:

S136L; SER141LEU

Links:

UniProtKB: Q9BX84#VAR_019963; OMIM: 607009.0011; dbSNP: rs121912625

NCBI 1000 Genomes Browser:

rs121912625

Molecular consequence:

NM_001177310.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001177311.2:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_017662.5:c.422C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intestinal hypomagnesemia 1
Synonyms:: HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA; HYPOMAGNESEMIC TETANY
Identifiers:: MONDO: MONDO:0011176; MedGen: C1865974; Orphanet: 30924; OMIM: 602014

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57472281[uid] AND (alive[prop]) (0)
Gene
BC037438 cDNA sequence BC037438 [Mus musculus]
BC037438 cDNA sequence BC037438 [Mus musculus]
Gene ID:403345

Gene
BC037438 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023933	OMIM	no assertion criteria provided	Pathogenic (Mar 2, 2004)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 14976260, 12032568

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023933

OMIM

no assertion criteria provided

Pathogenic
(Mar 2, 2004)

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

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

Chubanov V, Waldegger S, Mederos y Schnitzler M, Vitzthum H, Sassen MC, Seyberth HW, Konrad M, Gudermann T.

Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):2894-9. Epub 2004 Feb 19.

PubMed [citation]

PMID:: 14976260
PMCID:: PMC365716

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M.

Nat Genet. 2002 Jun;31(2):166-70. Epub 2002 May 28.

PubMed [citation]

PMID:: 12032568

Details of each submission

From OMIM, SCV000023933.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Chubanov et al. (2004) used the naturally occurring ser141-to-leu (S141L) mutation in the TRPM6 gene that had been found by Schlingmann et al. (2002) in a patient with hypomagnesemia with secondary hypocalcemia (HOMG1; 602014) to demonstrate abrogation of the oligomeric assembly of TRPM6 with TRPM7 (605692). To prove that the S141L mutation in TRPM6 was indeed responsible for the trafficking incompetence of the protein, they performed a homologous S138L exchange in TRPM7. Mutation of this amino acid, which is highly conserved within the TRPM subfamily, resulted in the retention of TRPM7 with the S138L mutation in intracellular membrane compartments.

#	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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