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Criteria Specification: CSpec Registry PDF

Variant: NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val)


40756 (ClinVar)

Gene: MAP2K1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance

HGVS expressions

NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val)


Met criteria codes 2

Expert Panel

Evidence Links 0

Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.848C>T (p.Ala283Val) variant in the MAP2K1 gene is 0.052% for African chromosomes by the Exome Aggregation Consortium (10/10366 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data; GTR ID: 21766, 26957; ClinVar SCV000207935.12; SCV000061262.5). In summary, this variant meets criteria to be classified as benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BA1, BP5.
Met criteria codes
0.096% (10/10366) in Africans (ExAC)
SCV000207935; SCV000061262
Approved on: 2017-05-09
Published on: 2018-12-10
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