6-7541614-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The ENST00000710359(DSP):c.-302C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000243 in 412,156 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000710359 5_prime_UTR
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DSP-AS1 | NR_183328.1 | n.119-561G>C | intron_variant | Intron 1 of 1 | ||||
DSP-AS1 | NR_183329.1 | n.159-561G>C | intron_variant | Intron 1 of 1 | ||||
DSP-AS1 | NR_183330.1 | n.626-561G>C | intron_variant | Intron 1 of 1 | ||||
DSP-AS1 | NR_183331.1 | n.39-561G>C | intron_variant | Intron 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000710359 | c.-302C>G | 5_prime_UTR_variant | Exon 1 of 24 | ENSP00000518230.1 | |||||
DSP-AS1 | ENST00000690863.2 | n.345-561G>C | intron_variant | Intron 1 of 1 | ||||||
DSP | ENST00000418664.2 | c.-302C>G | upstream_gene_variant | 1 | ENSP00000396591.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152168Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000269 AC: 7AN: 259878Hom.: 0 Cov.: 2 AF XY: 0.0000223 AC XY: 3AN XY: 134690
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152278Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74454
ClinVar
Submissions by phenotype
not provided Uncertain:1
Regulatory variant that has been reported in a patient with HCM who also has a pathogenic MYH7 variant (Lesurf et al., 2022); No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 35288587) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at