NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) AND Autism spectrum disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2018
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:: RCV000754677.9

Allele description [Variation Report for NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)]

NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)

Gene:

MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

Preferred name:

NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)

Other names:

p.D67N:GAC>AAC; NM_002755.3(MAP2K1):c.199G>A

HGVS:

NC_000015.10:g.66435145G>A
NG_008305.1:g.53273G>A
NM_002755.4:c.199G>AMANE SELECT
NP_002746.1:p.Asp67Asn
NP_002746.1:p.Asp67Asn
LRG_725t1:c.199G>A
LRG_725:g.53273G>A
LRG_725p1:p.Asp67Asn
NC_000015.9:g.66727483G>A
NM_002755.3:c.199G>A

Protein change:

D67N

Links:

dbSNP: rs727504317

NCBI 1000 Genomes Browser:

rs727504317

Molecular consequence:

NM_002755.4:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autism spectrum disorder
Synonyms:: Autism spectrum disorders
Identifiers:: MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804769	Liping Wei Laboratory, Peking University	criteria provided, single submitter (Zhou et al. (Hum Mutat. 2019))	Pathogenic (Aug 1, 2018)	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

SCV000804769

Liping Wei Laboratory, Peking University

criteria provided, single submitter

(Zhou et al. (Hum Mutat. 2019))

Pathogenic
(Aug 1, 2018)

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
Chinese	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ, Zhang J, Li Z, Lin X, Li J, Wang S, Yang C, Wu Q, Ye AY, Wang M, Wang D, Pu TZ, Wu YY, Wei L.

Hum Mutat. 2019 Jun;40(6):801-815. doi: 10.1002/humu.23724. Epub 2019 Apr 29.

PubMed [citation]

PMID:: 30763456
PMCID:: PMC6593842

Details of each submission

From Liping Wei Laboratory, Peking University, SCV000804769.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Chinese	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Oct 26, 2024

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