1-43991961-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 1P and 1B. PP3BP4
The NM_152499.4(CCDC24):c.83T>C(p.Leu28Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000914 in 1,531,364 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_152499.4 missense
Scores
Clinical Significance
Conservation
Publications
- atypical glycine encephalopathyInheritance: AR, Unknown Classification: STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet, G2P
- infantile glycine encephalopathyInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151870Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000564 AC: 8AN: 141938 AF XY: 0.0000801 show subpopulations
GnomAD4 exome AF: 0.00000870 AC: 12AN: 1379378Hom.: 0 Cov.: 33 AF XY: 0.0000103 AC XY: 7AN XY: 677400 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151986Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74300 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.83T>C (p.L28P) alteration is located in exon 2 (coding exon 1) of the CCDC24 gene. This alteration results from a T to C substitution at nucleotide position 83, causing the leucine (L) at amino acid position 28 to be replaced by a proline (P). 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