19-407328-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001136263.2(C2CD4C):c.1034G>A(p.Cys345Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000107 in 1,396,780 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000133 AC: 2AN: 149924Hom.: 0 AF XY: 0.0000250 AC XY: 2AN XY: 80082
GnomAD4 exome AF: 0.0000107 AC: 15AN: 1396780Hom.: 0 Cov.: 32 AF XY: 0.0000116 AC XY: 8AN XY: 688930
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1034G>A (p.C345Y) alteration is located in exon 2 (coding exon 1) of the C2CD4C gene. This alteration results from a G to A substitution at nucleotide position 1034, causing the cysteine (C) at amino acid position 345 to be replaced by a tyrosine (Y). 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