NM_014773.5:c.455C>T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014773.5(DELE1):c.455C>T(p.Pro152Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000261 in 1,614,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014773.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DELE1 | ENST00000432126.7 | c.455C>T | p.Pro152Leu | missense_variant | Exon 5 of 12 | 1 | NM_014773.5 | ENSP00000396225.2 | ||
DELE1 | ENST00000194118.8 | c.455C>T | p.Pro152Leu | missense_variant | Exon 5 of 13 | 5 | ENSP00000194118.4 | |||
DELE1 | ENST00000508751.1 | c.455C>T | p.Pro152Leu | missense_variant | Exon 5 of 9 | 5 | ENSP00000422686.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000171 AC: 43AN: 251298Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135858
GnomAD4 exome AF: 0.000278 AC: 406AN: 1461842Hom.: 0 Cov.: 30 AF XY: 0.000268 AC XY: 195AN XY: 727220
GnomAD4 genome AF: 0.000105 AC: 16AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.000135 AC XY: 10AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.455C>T (p.P152L) alteration is located in exon 5 (coding exon 5) of the KIAA0141 gene. This alteration results from a C to T substitution at nucleotide position 455, causing the proline (P) at amino acid position 152 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