NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 2019
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:: RCV001774130.2

Allele description [Variation Report for NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr)]

NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_030662.4(MAP2K2):c.1151G>A (p.Cys384Tyr)

HGVS:

NC_000019.10:g.4090650C>T
NG_007996.1:g.38479G>A
NM_030662.4:c.1151G>AMANE SELECT
NP_109587.1:p.Cys384Tyr
LRG_750t1:c.1151G>A
LRG_750:g.38479G>A
NC_000019.9:g.4090648C>T
NM_030662.3:c.1151G>A

Protein change:

C384Y

Links:

dbSNP: rs2040846395

NCBI 1000 Genomes Browser:

rs2040846395

Molecular consequence:

NM_030662.4:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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hivep1 HIVEP zinc finger 1 [Danio rerio]
hivep1 HIVEP zinc finger 1 [Danio rerio]
Gene ID:100000517

Gene
Same Parent, Connectivity for PubChem Compound (Select 171837760) (2)
PubChem Compound

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001994645	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 15, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001994645

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 15, 2019)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV001994645.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014)

#	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

Last Updated: Sep 29, 2024

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