21-37982733-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000398948.5(DSCR4):n.315-29728A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.377 in 151,982 control chromosomes in the GnomAD database, including 11,297 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000398948.5 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSCR4 | ENST00000398948.5 | n.315-29728A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
KCNJ6 | ENST00000645093.1 | c.-28+137574A>G | intron_variant | P1 |
Frequencies
GnomAD3 genomes AF: 0.377 AC: 57206AN: 151864Hom.: 11275 Cov.: 31
GnomAD4 genome AF: 0.377 AC: 57272AN: 151982Hom.: 11297 Cov.: 31 AF XY: 0.378 AC XY: 28118AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at