rs150073007
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 8P and 2B. PVS1BP6_Moderate
The NM_170606.3(KMT2C):c.2447dupA(p.Tyr816fs) variant causes a frameshift, stop gained change. Variant has been reported in ClinVar as Benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_170606.3 frameshift, stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 72119AN: 145804Hom.: 0 Cov.: 0 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR;InbreedingCoeff AF: 0.492 AC: 635498AN: 1292742Hom.: 0 Cov.: 75 AF XY: 0.492 AC XY: 317601AN XY: 645684
GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.495 AC: 72179AN: 145924Hom.: 0 Cov.: 0 AF XY: 0.495 AC XY: 35339AN XY: 71454
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency -
Intellectual disability Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at