NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) AND Cardiofaciocutaneous syndrome 4

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Sep 2, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV001334284.3

Allele description [Variation Report for NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)]

NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)

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.1162C>T (p.Arg388Trp)

Other names:

NM_030662.3(MAP2K2):c.1162C>T

HGVS:

NC_000019.10:g.4090639G>A
NG_007996.1:g.38490C>T
NM_030662.4:c.1162C>TMANE SELECT
NP_109587.1:p.Arg388Trp
NP_109587.1:p.Arg388Trp
LRG_750t1:c.1162C>T
LRG_750:g.38490C>T
LRG_750p1:p.Arg388Trp
NC_000019.9:g.4090637G>A
NM_030662.3:c.1162C>T

Protein change:

R388W

Links:

dbSNP: rs144383241

NCBI 1000 Genomes Browser:

rs144383241

Molecular consequence:

NM_030662.4:c.1162C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiofaciocutaneous syndrome 4 (CFC4)
Identifiers:: MONDO: MONDO:0014114; MedGen: C3809007; Orphanet: 1340; OMIM: 615280

Recent activity

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JGI_CAAR5990.fwd NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7738500 5'...
JGI_CAAR5990.fwd NIH_XGC_tropLiv1 Xenopus tropicalis cDNA clone IMAGE:7738500 5', mRNA sequence
gi|59213760|gnl|dbEST|27741149|gb|D 18.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001527084	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 31, 2018)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002794992	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 2, 2021)	unknown	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

SCV001527084

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 31, 2018)

maternal

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002794992

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 2, 2021)

unknown

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	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	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 Baylor Genetics, SCV001527084.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

From Fulgent Genetics, Fulgent Genetics, SCV002794992.1

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

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

Last Updated: Sep 29, 2024

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