9-127935750-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003863.4(DPM2):c.227C>A(p.Thr76Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign 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. T76S) has been classified as Benign.
Frequency
Consequence
NM_003863.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPM2 | NM_003863.4 | c.227C>A | p.Thr76Asn | missense_variant | 4/4 | ENST00000314392.13 | |
DPM2 | NM_001378437.1 | c.137C>A | p.Thr46Asn | missense_variant | 3/3 | ||
DPM2 | NR_165631.1 | n.384C>A | non_coding_transcript_exon_variant | 4/4 | |||
DPM2 | NR_165632.1 | n.68C>A | non_coding_transcript_exon_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPM2 | ENST00000314392.13 | c.227C>A | p.Thr76Asn | missense_variant | 4/4 | 1 | NM_003863.4 | P1 | |
ENST00000592240.5 | n.143+1105G>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 51
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at