22-21710733-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013313.5(YPEL1):c.12G>A(p.Met4Ile) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013313.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
YPEL1 | NM_013313.5 | c.12G>A | p.Met4Ile | missense_variant | Exon 2 of 5 | ENST00000339468.8 | NP_037445.1 | |
YPEL1 | XM_047441355.1 | c.12G>A | p.Met4Ile | missense_variant | Exon 2 of 5 | XP_047297311.1 | ||
YPEL1 | XM_047441356.1 | c.12G>A | p.Met4Ile | missense_variant | Exon 2 of 5 | XP_047297312.1 | ||
YPEL1 | NR_130910.2 | n.356G>A | non_coding_transcript_exon_variant | Exon 2 of 5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
YPEL1 | ENST00000339468.8 | c.12G>A | p.Met4Ile | missense_variant | Exon 2 of 5 | 1 | NM_013313.5 | ENSP00000342832.3 | ||
YPEL1 | ENST00000672036.2 | c.117G>A | p.Met39Ile | missense_variant | Exon 1 of 4 | ENSP00000500196.2 | ||||
YPEL1 | ENST00000403503.1 | c.12G>A | p.Met4Ile | missense_variant | Exon 2 of 3 | 3 | ENSP00000386014.1 | |||
YPEL1 | ENST00000477675.1 | n.323G>A | non_coding_transcript_exon_variant | Exon 2 of 5 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.12G>A (p.M4I) alteration is located in exon 2 (coding exon 1) of the YPEL1 gene. This alteration results from a G to A substitution at nucleotide position 12, causing the methionine (M) at amino acid position 4 to be replaced by an isoleucine (I). 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
Publications
No publications associated with this variant yet.