6-7576294-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_004415.4(DSP):c.2631G>T(p.Arg877Ser) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R877R) has been classified as Benign.
Frequency
Consequence
NM_004415.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSP | NM_004415.4 | c.2631G>T | p.Arg877Ser | missense_variant, splice_region_variant | 19/24 | ENST00000379802.8 | |
DSP | NM_001319034.2 | c.2631G>T | p.Arg877Ser | missense_variant, splice_region_variant | 19/24 | ||
DSP | NM_001008844.3 | c.2631G>T | p.Arg877Ser | missense_variant, splice_region_variant | 19/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802.8 | c.2631G>T | p.Arg877Ser | missense_variant, splice_region_variant | 19/24 | 1 | NM_004415.4 | P2 | |
DSP | ENST00000418664.2 | c.2631G>T | p.Arg877Ser | missense_variant, splice_region_variant | 19/24 | 1 | A2 | ||
DSP | ENST00000710359.1 | c.2631G>T | p.Arg877Ser | missense_variant, splice_region_variant | 19/24 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 43
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at