The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Criteria Specification: CSpec Registry PDF

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

CA134622

40756 (ClinVar)

Gene: MAP2K1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: d798c554-02fa-4c7b-96d8-4fda7463f9de

HGVS expressions

NM_002755.3:c.848C>T
NM_002755.3(MAP2K1):c.848C>T (p.Ala283Val)
NC_000015.10:g.66485144C>T
CM000677.2:g.66485144C>T
NC_000015.9:g.66777482C>T
CM000677.1:g.66777482C>T
NC_000015.8:g.64564536C>T
NG_008305.1:g.103272C>T
ENST00000307102.9:c.848C>T
ENST00000566326.1:c.320C>T

Benign

Met criteria codes 2
BA1 BP5

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
BA1
0.096% (10/10366) in Africans (ExAC)
BP5
SCV000207935; SCV000061262
Approved on: 2017-05-09
Published on: 2018-12-10
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