19-407446-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001136263.2(C2CD4C):c.916C>T(p.Arg306Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000231 in 1,472,472 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136263.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000527 AC: 8AN: 151910Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000267 AC: 2AN: 74842Hom.: 0 AF XY: 0.0000252 AC XY: 1AN XY: 39710
GnomAD4 exome AF: 0.0000197 AC: 26AN: 1320562Hom.: 0 Cov.: 31 AF XY: 0.0000201 AC XY: 13AN XY: 646326
GnomAD4 genome AF: 0.0000527 AC: 8AN: 151910Hom.: 0 Cov.: 33 AF XY: 0.0000809 AC XY: 6AN XY: 74198
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.916C>T (p.R306W) alteration is located in exon 2 (coding exon 1) of the C2CD4C gene. This alteration results from a C to T substitution at nucleotide position 916, causing the arginine (R) at amino acid position 306 to be replaced by a tryptophan (W). 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