NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND Cardio-facio-cutaneous syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000208748.10

Allele description [Variation Report for NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)]

NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)

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.171G>T (p.Lys57Asn)

HGVS:

NC_000015.10:g.66435117G>T
NG_008305.1:g.53245G>T
NM_002755.4:c.171G>TMANE SELECT
NP_002746.1:p.Lys57Asn
LRG_725t1:c.171G>T
LRG_725:g.53245G>T
LRG_725p1:p.Lys57Asn
NC_000015.9:g.66727455G>T
NM_002755.3:c.171G>T

Protein change:

K57N; LYS57ASN

Links:

OMIM: 176872.0007; dbSNP: rs869025608

NCBI 1000 Genomes Browser:

rs869025608

Molecular consequence:

NM_002755.4:c.171G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardio-facio-cutaneous syndrome
Synonyms:: Cardiofaciocutaneous syndrome; CFC syndrome
Identifiers:: MONDO: MONDO:0015280; MedGen: C1275081; Orphanet: 1340; OMIM: PS115150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264640	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264640

GeneReviews

no classification provided

not provided

germline

literature only

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

Marks JL, Gong Y, Chitale D, Golas B, McLellan MD, Kasai Y, Ding L, Mardis ER, Wilson RK, Solit D, Levine R, Michel K, Thomas RK, Rusch VW, Ladanyi M, Pao W.

Cancer Res. 2008 Jul 15;68(14):5524-8. doi: 10.1158/0008-5472.CAN-08-0099.

PubMed [citation]

PMID:: 18632602
PMCID:: PMC2586155

Details of each submission

From GeneReviews, SCV000264640.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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: Nov 10, 2024

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