14-74763986-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019589.3(YLPM1):c.497C>T(p.Pro166Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000631 in 1,426,238 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P166A) has been classified as Uncertain significance.
Frequency
Consequence
NM_019589.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
YLPM1 | NM_019589.3 | c.497C>T | p.Pro166Leu | missense_variant | 1/21 | ENST00000325680.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
YLPM1 | ENST00000325680.12 | c.497C>T | p.Pro166Leu | missense_variant | 1/21 | 5 | NM_019589.3 | P2 | |
YLPM1 | ENST00000552421.5 | c.497C>T | p.Pro166Leu | missense_variant | 1/20 | 5 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 21
GnomAD3 exomes AF: 0.0000422 AC: 10AN: 236840Hom.: 0 AF XY: 0.00000782 AC XY: 1AN XY: 127858
GnomAD4 exome AF: 0.00000631 AC: 9AN: 1426238Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 708430
GnomAD4 genome ? Cov.: 21
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2022 | The c.497C>T (p.P166L) alteration is located in exon 1 (coding exon 1) of the YLPM1 gene. This alteration results from a C to T substitution at nucleotide position 497, causing the proline (P) at amino acid position 166 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