Variant: NM_002755.3(MAP2K1):c.69C>T (p.Thr23=)

CA181309

138155 (ClinVar)

Gene: MAP2K1

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

UUID: 3eacc550-bf0c-432b-b902-eee2cb07e8c4

HGVS expressions

NM_002755.3:c.69C>T
NM_002755.3(MAP2K1):c.69C>T (p.Thr23=)
ENST00000307102.9:c.69C>T
ENST00000425818.2:n.580C>T
NC_000015.10:g.66387416C>T
CM000677.2:g.66387416C>T
NC_000015.9:g.66679754C>T
CM000677.1:g.66679754C>T
NC_000015.8:g.64466808C>T
NG_008305.1:g.5544C>T

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Insufficient Evidence"

• Met criteria codes: BS1

Expert Panel

RASopathy VCEP

Criteria Specification Information

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.69C>T (p.Thr23=) variant in the MAP2K1 gene is 0.0484% (4/2820) of African 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.69C>T (p.Thr23=) variant in the MAP2K1 gene is 0.0484% (4/2820) of African 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)

Approved on: 2017-05-09

Published on: 2018-12-10