rs774440510
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP7BS1_Supporting
The NM_003859.3(DPM1):c.261T>A(p.Ile87=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000144 in 1,455,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003859.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DPM1 | NM_003859.3 | c.261T>A | p.Ile87= | splice_region_variant, synonymous_variant | 2/9 | ENST00000371588.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DPM1 | ENST00000371588.10 | c.261T>A | p.Ile87= | splice_region_variant, synonymous_variant | 2/9 | 1 | NM_003859.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000678 AC: 17AN: 250598Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135494
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1455536Hom.: 0 Cov.: 29 AF XY: 0.00000966 AC XY: 7AN XY: 724632
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Congenital disorder of glycosylation type 1E Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Sep 06, 2022 | This sequence change affects codon 87 of the DPM1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DPM1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs774440510, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 464500). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at