rs868044
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001481.3(GAS8):c.595G>A(p.Glu199Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00366 in 1,612,348 control chromosomes in the GnomAD database, including 269 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. E199E) has been classified as Benign.
Frequency
Consequence
NM_001481.3 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 | UniProt |
---|---|---|---|---|---|---|---|
GAS8 | NM_001481.3 | c.595G>A | p.Glu199Lys | missense_variant | 6/11 | ENST00000268699.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAS8 | ENST00000268699.9 | c.595G>A | p.Glu199Lys | missense_variant | 6/11 | 1 | NM_001481.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00597 AC: 908AN: 152200Hom.: 34 Cov.: 33
GnomAD3 exomes AF: 0.0150 AC: 3759AN: 250638Hom.: 205 AF XY: 0.0110 AC XY: 1491AN XY: 135460
GnomAD4 exome AF: 0.00342 AC: 4992AN: 1460030Hom.: 236 Cov.: 30 AF XY: 0.00291 AC XY: 2114AN XY: 726002
GnomAD4 genome AF: 0.00597 AC: 909AN: 152318Hom.: 33 Cov.: 33 AF XY: 0.00670 AC XY: 499AN XY: 74484
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 33 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 24, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at