chr14-74763928-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019589.3(YLPM1):c.439C>G(p.Pro147Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00000608 in 1,150,998 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. P147R) has been classified as Uncertain significance.
Frequency
Consequence
NM_019589.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.439C>G | p.Pro147Ala | missense_variant | 1/21 | ENST00000325680.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
YLPM1 | ENST00000325680.12 | c.439C>G | p.Pro147Ala | missense_variant | 1/21 | 5 | NM_019589.3 | P2 | |
YLPM1 | ENST00000552421.5 | c.439C>G | p.Pro147Ala | missense_variant | 1/20 | 5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000225 AC: 3AN: 133470Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000393 AC: 4AN: 1017528Hom.: 0 Cov.: 34 AF XY: 0.00000601 AC XY: 3AN XY: 499528
GnomAD4 genome ? AF: 0.0000225 AC: 3AN: 133470Hom.: 0 Cov.: 29 AF XY: 0.0000156 AC XY: 1AN XY: 64038
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 11, 2022 | The c.439C>G (p.P147A) alteration is located in exon 1 (coding exon 1) of the YLPM1 gene. This alteration results from a C to G substitution at nucleotide position 439, causing the proline (P) at amino acid position 147 to be replaced by an alanine (A). 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