NM_015338.6:c.3692C>T
Variant summary
Our verdict is Benign. The variant received -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. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1231A) has been classified as Uncertain significance.
Frequency
Consequence
NM_015338.6 missense
Scores
Clinical Significance
Conservation
Publications
- Bohring-Opitz syndromeInheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae), Illumina, ClinGen, Laboratory for Molecular Medicine, G2P, Orphanet
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00920 AC: 1401AN: 152204Hom.: 62 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0203 AC: 5078AN: 250264 AF XY: 0.0162 show subpopulations
GnomAD4 exome AF: 0.00553 AC: 8089AN: 1461504Hom.: 428 Cov.: 31 AF XY: 0.00506 AC XY: 3678AN XY: 727060 show subpopulations
GnomAD4 genome AF: 0.00921 AC: 1403AN: 152322Hom.: 61 Cov.: 32 AF XY: 0.0104 AC XY: 777AN XY: 74486 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:3
- -
- -
- -
not specified Benign:1Other:1
- -
- -
Bohring-Opitz syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at