6-7541914-AC-GCA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004415.4(DSP):c.-2_-1delACinsGCA variant causes a start retained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004415.4 start_retained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802 | c.-2_-1delACinsGCA | start_retained_variant | Exon 1 of 24 | 1 | NM_004415.4 | ENSP00000369129.3 | |||
DSP | ENST00000379802 | c.-2_-1delACinsGCA | 5_prime_UTR_variant | Exon 1 of 24 | 1 | NM_004415.4 | ENSP00000369129.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
The c.-2_-1delACinsGCA variant, located in in the 5' untranslated region (5’UTR) of the DSP gene, results from the deletion of two nucleotides (AC) and the insertion of 3 nucleotides (GCA) at nucleotide positions -2 to -1. These nucleotide positions are not well conserved in available vertebrate species. Since supporting evidence is limited at this time, 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.