rs200713204
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015603.3(CCDC9):c.274G>A(p.Gly92Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000364 in 1,372,398 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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 Uncertain significance in ClinVar.
Frequency
Consequence
NM_015603.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCDC9 | ENST00000221922.11 | c.274G>A | p.Gly92Arg | missense_variant | Exon 5 of 12 | 1 | NM_015603.3 | ENSP00000221922.5 | ||
CCDC9 | ENST00000643617.1 | c.274G>A | p.Gly92Arg | missense_variant | Exon 5 of 14 | ENSP00000494410.1 | ||||
CCDC9 | ENST00000599398.5 | c.274G>A | p.Gly92Arg | missense_variant | Exon 5 of 5 | 3 | ENSP00000469717.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000602 AC: 1AN: 166232Hom.: 0 AF XY: 0.0000111 AC XY: 1AN XY: 89790
GnomAD4 exome AF: 0.00000364 AC: 5AN: 1372398Hom.: 0 Cov.: 32 AF XY: 0.00000592 AC XY: 4AN XY: 675904
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at