rs141125763
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001481.3(GAS8):āc.808G>Cā(p.Ala270Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00188 in 1,613,844 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001481.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GAS8 | NM_001481.3 | c.808G>C | p.Ala270Pro | missense_variant | Exon 7 of 11 | ENST00000268699.9 | NP_001472.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00148 AC: 226AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00180 AC: 450AN: 250464Hom.: 4 AF XY: 0.00197 AC XY: 267AN XY: 135408
GnomAD4 exome AF: 0.00193 AC: 2815AN: 1461516Hom.: 12 Cov.: 31 AF XY: 0.00196 AC XY: 1426AN XY: 727018
GnomAD4 genome AF: 0.00148 AC: 226AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.00138 AC XY: 103AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:2
GAS8: BP4, BS2 -
- -
Inborn genetic diseases Uncertain:1
The c.808G>C (p.A270P) alteration is located in exon 7 (coding exon 7) of the GAS8 gene. This alteration results from a G to C substitution at nucleotide position 808, causing the alanine (A) at amino acid position 270 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Primary ciliary dyskinesia 33 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at