rs12782946
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018017.4(CCDC186):c.536G>A(p.Arg179Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0733 in 1,613,686 control chromosomes in the GnomAD database, including 4,984 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_018017.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC186 | ENST00000369287.8 | c.536G>A | p.Arg179Gln | missense_variant | Exon 2 of 16 | 1 | NM_018017.4 | ENSP00000358293.3 | ||
CCDC186 | ENST00000369286.1 | c.536G>A | p.Arg179Gln | missense_variant | Exon 2 of 2 | 1 | ENSP00000358292.1 | |||
CCDC186 | ENST00000648613.1 | c.536G>A | p.Arg179Gln | missense_variant | Exon 3 of 17 | ENSP00000498136.1 | ||||
CCDC186 | ENST00000369285.7 | c.536G>A | p.Arg179Gln | missense_variant | Exon 3 of 3 | 2 | ENSP00000358291.3 |
Frequencies
GnomAD3 genomes AF: 0.0571 AC: 8689AN: 152074Hom.: 339 Cov.: 33
GnomAD3 exomes AF: 0.0555 AC: 13923AN: 251008Hom.: 526 AF XY: 0.0552 AC XY: 7496AN XY: 135688
GnomAD4 exome AF: 0.0750 AC: 109643AN: 1461494Hom.: 4645 Cov.: 31 AF XY: 0.0731 AC XY: 53166AN XY: 727040
GnomAD4 genome AF: 0.0571 AC: 8689AN: 152192Hom.: 339 Cov.: 33 AF XY: 0.0559 AC XY: 4158AN XY: 74410
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at