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_002755.3(MAP2K1):c.927A>T (p.Ala309=)

CA180933

40758 (ClinVar)

Gene: MAP2K1 (HGNC:5604)
Condition: RASopathy (MONDO:0021060)
Inheritance Mode: Autosomal dominant inheritance
UUID: a895f2eb-4350-485d-b678-a8f94a4cc002
Approved on: 2017-05-09
Published on: 2018-12-10

HGVS expressions

NM_002755.3(MAP2K1):c.927A>T (p.Ala309=)
NM_002755.3:c.927A>T
ENST00000307102.9:c.927A>T
ENST00000566326.1:c.399A>T
NC_000015.10:g.66487259A>T
CM000677.2:g.66487259A>T
NC_000015.9:g.66779597A>T
CM000677.1:g.66779597A>T
NC_000015.8:g.64566651A>T
NG_008305.1:g.105387A>T
More

Benign

Met criteria codes 1
BA1

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.927A>T (p.Ala309=) variant in the MAP2K1 gene is 1.307% (156/10406) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Met criteria codes
BA1
The filtering allele frequency of the c.927A>T (p.Ala309=) variant in the MAP2K1 gene is 1.307% (156/10406) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Curation History
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