8-27740485-A-G
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_018246.3(CCDC25):c.584T>C(p.Met195Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,612,964 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018246.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152056Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000404 AC: 1AN: 247812 AF XY: 0.00000746 show subpopulations
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1460908Hom.: 0 Cov.: 29 AF XY: 0.0000165 AC XY: 12AN XY: 726732 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152056Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74258 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.584T>C (p.M195T) alteration is located in exon 8 (coding exon 8) of the CCDC25 gene. This alteration results from a T to C substitution at nucleotide position 584, causing the methionine (M) at amino acid position 195 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at