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NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) AND Cardio-facio-cutaneous syndrome

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000824949.2

Allele description [Variation Report for NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)]

NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)

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.811G>A (p.Asp271Asn)
HGVS:
  • NC_000019.10:g.4099309C>T
  • NG_007996.1:g.29820G>A
  • NM_030662.4:c.811G>AMANE SELECT
  • NP_109587.1:p.Asp271Asn
  • LRG_750t1:c.811G>A
  • LRG_750:g.29820G>A
  • NC_000019.9:g.4099307C>T
  • NC_000019.9:g.4099307C>T
  • NM_030662.3:c.811G>A
Protein change:
D271N
Links:
dbSNP: rs758031424
NCBI 1000 Genomes Browser:
rs758031424
Molecular consequence:
  • NM_030662.4:c.811G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000965984Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely benignmaternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV000965984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Sep 29, 2024