20-32436404-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015338.6(ASXL1):c.3692C>T(p.Ser1231Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00588 in 1,613,826 control chromosomes in the GnomAD database, including 489 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_015338.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00920 AC: 1401AN: 152204Hom.: 62 Cov.: 32
GnomAD3 exomes AF: 0.0203 AC: 5078AN: 250264Hom.: 316 AF XY: 0.0162 AC XY: 2188AN XY: 135432
GnomAD4 exome AF: 0.00553 AC: 8089AN: 1461504Hom.: 428 Cov.: 31 AF XY: 0.00506 AC XY: 3678AN XY: 727060
GnomAD4 genome AF: 0.00921 AC: 1403AN: 152322Hom.: 61 Cov.: 32 AF XY: 0.0104 AC XY: 777AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1Other:1
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Bohring-Opitz syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at