rs140344685
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001481.3(GAS8):āc.316C>Gā(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 (ā ). 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