rs143578678
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_030632.3(ASXL3):c.5002G>A(p.Val1668Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00039 in 1,614,024 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_030632.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ASXL3 | NM_030632.3 | c.5002G>A | p.Val1668Met | missense_variant | 12/12 | ENST00000269197.12 | NP_085135.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ASXL3 | ENST00000269197.12 | c.5002G>A | p.Val1668Met | missense_variant | 12/12 | 5 | NM_030632.3 | ENSP00000269197 | P4 | |
ASXL3 | ENST00000696964.1 | c.5005G>A | p.Val1669Met | missense_variant | 13/13 | ENSP00000513003 | A2 | |||
ASXL3 | ENST00000681521.1 | c.4882G>A | p.Val1628Met | missense_variant | 11/11 | ENSP00000506037 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00200 AC: 304AN: 152208Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000574 AC: 143AN: 249212Hom.: 1 AF XY: 0.000436 AC XY: 59AN XY: 135208
GnomAD4 exome AF: 0.000221 AC: 323AN: 1461698Hom.: 3 Cov.: 34 AF XY: 0.000180 AC XY: 131AN XY: 727130
GnomAD4 genome AF: 0.00202 AC: 307AN: 152326Hom.: 2 Cov.: 32 AF XY: 0.00188 AC XY: 140AN XY: 74486
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Jun 14, 2016 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 22, 2019 | - - |
Inborn genetic diseases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
ASXL3-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | May 03, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Dec 05, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at