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

  • See Evidence submitted by expert panel for details.

Variant: NM_002755.3(MAP2K1):c.1098T>C (p.Ala366=)

CA7624163

448949 (ClinVar)

Gene: MAP2K1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 9581cc43-8005-4a02-8e31-2c7cb18c67df
Approved on: 2017-05-09
Published on: 2018-12-10

HGVS expressions

NM_002755.3:c.1098T>C
NM_002755.3(MAP2K1):c.1098T>C (p.Ala366=)
NC_000015.10:g.66490531T>C
CM000677.2:g.66490531T>C
NC_000015.9:g.66782869T>C
CM000677.1:g.66782869T>C
NC_000015.8:g.64569923T>C
NG_008305.1:g.108659T>C
NG_051234.1:g.12285A>G
NM_006049.2:c.*208A>G
NM_006049.3:c.*208A>G
NR_138061.1:n.727A>G
ENST00000307102.9:c.1098T>C
ENST00000395589.6:c.*208A>G
ENST00000563480.6:c.*208A>G
ENST00000566326.1:c.570T>C

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.1098T>C (p.Ala366=) variant in the MAP2K1 gene is 0.0459% (8/8654) 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.1098T>C (p.Ala366=) variant in the MAP2K1 gene is 0.0459% (8/8654) 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)
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