NM_030662.4(MAP2K2):c.1021G>A (p.Asp341Asn) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 2022
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:: RCV002407055.2

Allele description [Variation Report for NM_030662.4(MAP2K2):c.1021G>A (p.Asp341Asn)]

NM_030662.4(MAP2K2):c.1021G>A (p.Asp341Asn)

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.1021G>A (p.Asp341Asn)

HGVS:

NC_000019.10:g.4095413C>T
NG_007996.1:g.33716G>A
NM_030662.4:c.1021G>AMANE SELECT
NP_109587.1:p.Asp341Asn
LRG_750t1:c.1021G>A
LRG_750:g.33716G>A
NC_000019.9:g.4095411C>T
NM_030662.3:c.1021G>A

Protein change:

D341N

Links:

dbSNP: rs564067943

NCBI 1000 Genomes Browser:

rs564067943

Molecular consequence:

NM_030662.4:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Ruminococcus from koala faeces
Ruminococcus from koala faeces

biosample
MAG: Lachnospiraceae bacterium Zagget2, whole genome shotgun sequencing project
MAG: Lachnospiraceae bacterium Zagget2, whole genome shotgun sequencing project
gi|1129876966|gb|MSHD00000000.1|MSH 0000

Nucleotide
MAG: Lachnospiraceae bacterium Phil5, whole genome shotgun sequencing project
MAG: Lachnospiraceae bacterium Phil5, whole genome shotgun sequencing project
gi|1269037132|gb|NWBM00000000.1|NWB 0000

Nucleotide
338368[uid] AND (alive[prop]) (1)
Gene
Pheta2 PH domain containing endocytic trafficking adaptor 2 [Mus musculus]
Pheta2 PH domain containing endocytic trafficking adaptor 2 [Mus musculus]
Gene ID:338368

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002675702	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002675702

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 11, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002675702.2

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

Description

The p.D341N variant (also known as c.1021G>A), located in coding exon 9 of the MAP2K2 gene, results from a G to A substitution at nucleotide position 1021. The aspartic acid at codon 341 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024

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