rs148760410
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS1
The NM_001481.3(GAS8):c.407G>C(p.Ser136Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000768 in 1,613,970 control chromosomes in the GnomAD database, including 9 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001481.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAS8 | NM_001481.3 | c.407G>C | p.Ser136Thr | missense_variant | 4/11 | ENST00000268699.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAS8 | ENST00000268699.9 | c.407G>C | p.Ser136Thr | missense_variant | 4/11 | 1 | NM_001481.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000894 AC: 136AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00176 AC: 443AN: 251324Hom.: 0 AF XY: 0.00163 AC XY: 221AN XY: 135854
GnomAD4 exome AF: 0.000754 AC: 1102AN: 1461776Hom.: 9 Cov.: 33 AF XY: 0.000755 AC XY: 549AN XY: 727208
GnomAD4 genome ? AF: 0.000900 AC: 137AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.000927 AC XY: 69AN XY: 74404
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 33 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 18, 2024 | - - |
GAS8-related condition Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 12, 2019 | This variant is classified as 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