chr9-127936603-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 6P and 4B. PM2PP3_StrongBS1
The NM_003863.4(DPM2):c.146A>T(p.Tyr49Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000144 in 1,391,038 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y49C) has been classified as Uncertain significance.
Frequency
Consequence
NM_003863.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPM2 | NM_003863.4 | c.146A>T | p.Tyr49Phe | missense_variant | 3/4 | ENST00000314392.13 | |
DPM2 | NM_001378437.1 | c.56A>T | p.Tyr19Phe | missense_variant | 2/3 | ||
DPM2 | NR_165631.1 | n.303A>T | non_coding_transcript_exon_variant | 3/4 | |||
DPM2 | NR_165632.1 | n.38-823A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPM2 | ENST00000314392.13 | c.146A>T | p.Tyr49Phe | missense_variant | 3/4 | 1 | NM_003863.4 | P1 | |
ENST00000592240.5 | n.143+1958T>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1391038Hom.: 0 Cov.: 30 AF XY: 0.00000146 AC XY: 1AN XY: 684782
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at