NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 2017
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:: RCV000588572.3

Allele description [Variation Report for NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)]

NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)

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.1187C>T (p.Thr396Met)

HGVS:

NC_000019.10:g.4090614G>A
NG_007996.1:g.38515C>T
NM_030662.4:c.1187C>TMANE SELECT
NP_109587.1:p.Thr396Met
NP_109587.1:p.Thr396Met
LRG_750t1:c.1187C>T
LRG_750:g.38515C>T
LRG_750p1:p.Thr396Met
NC_000019.9:g.4090612G>A
NM_030662.3(MAP2K2):c.1187C>T
NM_030662.3:c.1187C>T

Protein change:

T396M

Links:

dbSNP: rs117945277

NCBI 1000 Genomes Browser:

rs117945277

Molecular consequence:

NM_030662.4:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329626	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 18, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000329626

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 18, 2017)

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, SCV000329626.7

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

Description

The T396M variant of uncertain significance in the MAP2K2 gene has not been published as pathogenic or benign to our knowledge. The T396M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, T396M has been observed in 0.02% (10/58586) of alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

#	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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