6-7541378-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000710359(DSP):c.-538G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.552 in 152,362 control chromosomes in the GnomAD database, including 24,417 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
ENST00000710359 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000710359 | c.-538G>C | 5_prime_UTR_variant | Exon 1 of 24 | ENSP00000518230.1 | |||||
DSP-AS1 | ENST00000561592.2 | n.41C>G | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
DSP-AS1 | ENST00000687028.2 | n.41C>G | non_coding_transcript_exon_variant | Exon 1 of 2 | ||||||
DSP-AS1 | ENST00000690863.2 | n.345-325C>G | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.552 AC: 83888AN: 151976Hom.: 24338 Cov.: 33
GnomAD4 exome AF: 0.467 AC: 129AN: 276Hom.: 36 Cov.: 0 AF XY: 0.403 AC XY: 71AN XY: 176
GnomAD4 genome AF: 0.552 AC: 83975AN: 152086Hom.: 24381 Cov.: 33 AF XY: 0.547 AC XY: 40670AN XY: 74322
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at