rs1293246328
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP5BP4BS2
The NM_018489.3(ASH1L):c.2170G>T(p.Ala724Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000821 in 1,461,374 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_018489.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 151984Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461374Hom.: 0 Cov.: 33 AF XY: 0.00000963 AC XY: 7AN XY: 726996
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000658 AC: 1AN: 151984Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74204
ClinVar
Submissions by phenotype
Intellectual disability, autosomal dominant 52 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Nov 15, 2012 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at