chr19-40223428-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024877.4(CCNP):c.632G>A(p.Cys211Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000216 in 1,600,602 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024877.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152248Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000952 AC: 21AN: 220474Hom.: 0 AF XY: 0.0000822 AC XY: 10AN XY: 121622
GnomAD4 exome AF: 0.000227 AC: 329AN: 1448354Hom.: 0 Cov.: 31 AF XY: 0.000233 AC XY: 168AN XY: 719670
GnomAD4 genome AF: 0.000105 AC: 16AN: 152248Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.632G>A (p.C211Y) alteration is located in exon 4 (coding exon 4) of the CNTD2 gene. This alteration results from a G to A substitution at nucleotide position 632, causing the cysteine (C) at amino acid position 211 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