18-74560917-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032649.6(CNDP1):c.365C>T(p.Pro122Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032649.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNDP1 | ENST00000358821.8 | c.365C>T | p.Pro122Leu | missense_variant | Exon 4 of 12 | 1 | NM_032649.6 | ENSP00000351682.3 | ||
CNDP1 | ENST00000582365.1 | c.236C>T | p.Pro79Leu | missense_variant | Exon 3 of 11 | 5 | ENSP00000462096.1 | |||
CNDP1 | ENST00000585136.1 | n.469-1130C>T | intron_variant | Intron 3 of 4 | 3 | |||||
CNDP1 | ENST00000584316.5 | n.-47C>T | upstream_gene_variant | 4 | ENSP00000463807.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727232
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152166Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.365C>T (p.P122L) alteration is located in exon 4 (coding exon 4) of the CNDP1 gene. This alteration results from a C to T substitution at nucleotide position 365, causing the proline (P) at amino acid position 122 to be replaced by a leucine (L). 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