Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No Criteria Specification was provided in the publication event for the variant classifaction.
  • The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.

Variant: NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=)

CA143886

50938 (ClinVar)

Gene: MAP2K2 (HGNC:5605)
Condition: RASopathy (MONDO:0021060)
Inheritance Mode: Autosomal dominant inheritance
UUID: b23e5835-5f83-4a46-b686-0e354d53e944
Approved on: 2017-05-09
Published on: 2018-12-10

HGVS expressions

NM_030662.3(MAP2K2):c.1140C>T (p.Ala380=)
NM_030662.3:c.1140C>T
ENST00000262948.9:c.1140C>T
ENST00000394867.8:c.849C>T
ENST00000597263.5:n.325C>T
ENST00000599021.1:n.250C>T
ENST00000600584.5:n.2589C>T
ENST00000601786.5:n.1441C>T
NC_000019.10:g.4090661G>A
CM000681.2:g.4090661G>A
NC_000019.9:g.4090659G>A
CM000681.1:g.4090659G>A
NC_000019.8:g.4041659G>A
NG_007996.1:g.38468C>T
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Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"
Met criteria codes 1
BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.1140C>T (p.Ala380=) variant in the MAP2K2 gene is 0.003% (2/796) of East Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Met criteria codes
BS1
The filtering allele frequency of the c.1140C>T (p.Ala380=) variant in the MAP2K2 gene is 0.003% (2/796) of East Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Curation History
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