rs140344685
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001481.3(GAS8):c.316C>G(p.Leu106Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000219 in 1,613,874 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. L106L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001481.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAS8 | NM_001481.3 | c.316C>G | p.Leu106Val | missense_variant | 4/11 | ENST00000268699.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAS8 | ENST00000268699.9 | c.316C>G | p.Leu106Val | missense_variant | 4/11 | 1 | NM_001481.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000151 AC: 23AN: 152030Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000426 AC: 107AN: 251368Hom.: 2 AF XY: 0.000537 AC XY: 73AN XY: 135854
GnomAD4 exome AF: 0.000226 AC: 330AN: 1461726Hom.: 5 Cov.: 33 AF XY: 0.000325 AC XY: 236AN XY: 727180
GnomAD4 genome ? AF: 0.000151 AC: 23AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74376
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 33 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 15, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at