NM_030662.4(MAP2K2):c.210_212del (p.Asp71del) AND Smith-Magenis Syndrome-like

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 2016
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:: RCV000490823.1

Allele description [Variation Report for NM_030662.4(MAP2K2):c.210_212del (p.Asp71del)]

NM_030662.4(MAP2K2):c.210_212del (p.Asp71del)

Gene:

MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_030662.4(MAP2K2):c.210_212del (p.Asp71del)

HGVS:

NC_000019.10:g.4117512_4117514del
NG_007996.1:g.11617_11619del
NM_030662.4:c.210_212delMANE SELECT
NP_109587.1:p.Asp71del
LRG_750:g.11617_11619del
NC_000019.9:g.4117510_4117512del

Protein change:

D71del

Links:

dbSNP: rs1114167351

NCBI 1000 Genomes Browser:

rs1114167351

Molecular consequence:

NM_030662.4:c.210_212del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Smith-Magenis Syndrome-like
Identifiers:: MedGen: CN238491

Recent activity

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Mus musculus phosphorylase kinase alpha 2 (Phka2), transcript variant 2, mRNA
Mus musculus phosphorylase kinase alpha 2 (Phka2), transcript variant 2, mRNA
gi|1313966358|ref|NM_001177879.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299214	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics and 3D genomics	criteria provided, single submitter (Loviglio et al (Genome Med 2016))	Pathogenic (Aug 15, 2016)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000299214

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics and 3D genomics

criteria provided, single submitter

(Loviglio et al (Genome Med 2016))

Pathogenic
(Aug 15, 2016)

unknown

research

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	yes	not provided	not provided	not provided	1	no	research

Citations

PubMed

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Loviglio MN, Beck CR, White JJ, Leleu M, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Rougemont J, Xenarios I, Lupski JR, et al.

Genome Med. 2016 Nov 1;8(1):105.

PubMed [citation]

PMID:: 27799067
PMCID:: PMC5088687

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics and 3D genomics, SCV000299214.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	no	research	PubMed (1)

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

Last Updated: Apr 23, 2022

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