NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu) AND Scoliosis, isolated, susceptibility to, 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000656383.1

Allele description [Variation Report for NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu)]

NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu)

Gene:

MAPK7:mitogen-activated protein kinase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu)

HGVS:

NC_000017.11:g.19382246C>T
NG_027952.1:g.9974G>A
NG_031885.2:g.948G>A
NM_002749.4:c.1943C>TMANE SELECT
NM_139032.3:c.1526C>T
NM_139033.3:c.1943C>T
NM_139034.3:c.1943C>T
NP_002740.2:p.Pro648Leu
NP_620601.1:p.Pro509Leu
NP_620602.2:p.Pro648Leu
NP_620603.2:p.Pro648Leu
LRG_686:g.948G>A
NC_000017.10:g.19285559C>T
NM_002749.3:c.1943C>T

Protein change:

P509L

Links:

dbSNP: rs1555613564

NCBI 1000 Genomes Browser:

rs1555613564

Molecular consequence:

NM_002749.4:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_139032.3:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_139033.3:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_139034.3:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Scoliosis, isolated, susceptibility to, 1 (IS1)
Synonyms:: ADOLESCENT ISOLATED SCOLIOSIS
Identifiers:: MONDO: MONDO:0008419; MedGen: C2700406; OMIM: 181800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000575879	Shenzhen Key Laboratory of Neurogenomics, Beijing Genomics Institute Research, Beijing Genomics Institute	no assertion criteria provided	Pathogenic	germline, not applicable	case-control, in vivo	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000575879

Shenzhen Key Laboratory of Neurogenomics, Beijing Genomics Institute Research, Beijing Genomics Institute

no assertion criteria provided

Pathogenic

germline, not applicable

case-control, in vivo

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	germline	yes	not provided	not provided	not provided	not provided	not provided	case-control
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vivo
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.

Gao W, Chen C, Zhou T, Yang S, Gao B, Zhou H, Lian C, Wu Z, Qiu X, Yang X, Alattar E, Liu W, Su D, Sun S, Chen Y, Cheung KMC, Song Y, Luk KKD, Chan D, Sham PC, Xing C, Khor CC, et al.

Hum Mutat. 2017 Nov;38(11):1500-1510. doi: 10.1002/humu.23296. Epub 2017 Jul 25. Erratum in: Hum Mutat. 2021 Feb;42(2):218. doi: 10.1002/humu.24155.

PubMed [citation]

PMID:: 28714182

Details of each submission

From Shenzhen Key Laboratory of Neurogenomics, Beijing Genomics Institute Research, Beijing Genomics Institute, SCV000575879.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	PubMed (1)
2		not provided	not provided	not provided	case-control	PubMed (1)
3	not provided	not provided	not provided	not provided	in vivo	PubMed (1)

Description

not provided

Knocking down Mapk7 in zebrafish recapitulated the characteristic phenotype of AIS. The three MAPK7 mutants showed decreased osteogenic and chondrogenic capacities and decreased binding to downstream effectors RSK2 and/or MEF2C and disrupted nuclear translocation in cellular models. Taken together, these findings suggest that MAPK7 is a susceptibility gene for AIS.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided
3	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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