chr16-90040394-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001481.3(GAS8):c.1106G>A(p.Arg369His) variant causes a missense change. The variant allele was found at a frequency of 0.000631 in 1,611,558 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R369C) 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 -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAS8 | NM_001481.3 | c.1106G>A | p.Arg369His | missense_variant | 9/11 | ENST00000268699.9 | |
URAHP | NR_027335.2 | n.716C>T | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAS8 | ENST00000268699.9 | c.1106G>A | p.Arg369His | missense_variant | 9/11 | 1 | NM_001481.3 | P4 | |
URAHP | ENST00000409873.5 | n.716C>T | non_coding_transcript_exon_variant | 5/5 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00345 AC: 525AN: 152214Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.000918 AC: 225AN: 245026Hom.: 1 AF XY: 0.000693 AC XY: 92AN XY: 132778
GnomAD4 exome AF: 0.000338 AC: 493AN: 1459226Hom.: 4 Cov.: 32 AF XY: 0.000298 AC XY: 216AN XY: 725640
GnomAD4 genome AF: 0.00344 AC: 524AN: 152332Hom.: 4 Cov.: 32 AF XY: 0.00357 AC XY: 266AN XY: 74490
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia 33 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 23, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | May 06, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at