NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) AND Cardiofaciocutaneous syndrome 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 10, 2020
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:: RCV001312196.1

Allele description [Variation Report for NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)]

NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)

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.364A>G (p.Asn122Asp)

HGVS:

NC_000015.10:g.66436818A>G
NG_008305.1:g.54946A>G
NM_002755.4:c.364A>GMANE SELECT
NP_002746.1:p.Asn122Asp
NP_002746.1:p.Asn122Asp
LRG_725t1:c.364A>G
LRG_725:g.54946A>G
NC_000015.9:g.66729156A>G
NM_002755.3(MAP2K1):c.364A>G
NM_002755.3:c.364A>G

Protein change:

N122D

Links:

dbSNP: rs876657651

NCBI 1000 Genomes Browser:

rs876657651

Molecular consequence:

NM_002755.4:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiofaciocutaneous syndrome 3 (CFC3)
Identifiers:: MONDO: MONDO:0014113; MedGen: C3809006; Orphanet: 1340; OMIM: 615279

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001502658	MNM Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 10, 2020)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001502658

MNM Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 10, 2020)

de novo

clinical testing

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	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From MNM Diagnostics, SCV001502658.1

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

Description

According to ACMG Guidelines, the variant meets the following criteria of pathogenicity: PS2, PS4, PM2, PP2, PP3, PP4. This is a de novo variant of a missense heterozygotic mutation in exon 3 of MAP2K1 gene in position c.364A>G. The change results in the asparagine to aspartate substitution in codon 122. MAP2K1 mutations are responsible for the Cardio-facio-cutaneous Syndrome type 3 (CFCS) observed as well in the proband.

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

Last Updated: Dec 24, 2022

ClinVar

Relating variation to medicine