chr18-33738618-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBS1_SupportingBS2
The NM_030632.3(ASXL3):c.1214C>T(p.Pro405Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000607 in 1,613,752 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_030632.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249002Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135090
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461622Hom.: 0 Cov.: 33 AF XY: 0.0000550 AC XY: 40AN XY: 727080
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74306
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
ASXL3: BP4 -
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not specified Uncertain:1
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Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Uncertain:1
The ASXL3 c.1214C>T p.Pro405Leu is a missense variant that changes a single amino acid in the protein coding region from a proline to leucine. This variant has not been reported in the literature and is of uncertain significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at