rs34396910
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_StrongBP6BS1
The NM_000026.4(ADSL):āc.895A>Gā(p.Met299Val) variant causes a missense change. The variant allele was found at a frequency of 0.000151 in 1,614,222 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M299T) has been classified as Uncertain significance.
Frequency
Consequence
NM_000026.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADSL | NM_000026.4 | c.895A>G | p.Met299Val | missense_variant | 9/13 | ENST00000623063.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADSL | ENST00000623063.3 | c.895A>G | p.Met299Val | missense_variant | 9/13 | 1 | NM_000026.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000841 AC: 128AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000243 AC: 61AN: 251466Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135906
GnomAD4 exome AF: 0.0000787 AC: 115AN: 1461886Hom.: 0 Cov.: 32 AF XY: 0.0000715 AC XY: 52AN XY: 727244
GnomAD4 genome AF: 0.000840 AC: 128AN: 152336Hom.: 0 Cov.: 32 AF XY: 0.000886 AC XY: 66AN XY: 74496
ClinVar
Submissions by phenotype
not provided Uncertain:3
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jul 05, 2018 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2023 | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Nov 04, 2020 | - - |
Adenylosuccinate lyase deficiency Uncertain:1Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Mar 28, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
ADSL-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jun 06, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at