rs3805476
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000523005.1(ENSG00000253736):n.69+5041G>A 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 0.178 in 152,482 control chromosomes in the GnomAD database, including 2,659 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
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 |
---|---|---|---|---|---|---|---|
DUSP1 | NM_004417.4 | downstream_gene_variant | ENST00000239223.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000523005.1 | n.69+5041G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
DUSP1 | ENST00000239223.4 | downstream_gene_variant | 1 | NM_004417.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.178 AC: 26971AN: 151932Hom.: 2639 Cov.: 32
GnomAD4 exome AF: 0.174 AC: 75AN: 432Hom.: 7 Cov.: 0 AF XY: 0.165 AC XY: 43AN XY: 260
GnomAD4 genome ? AF: 0.178 AC: 27013AN: 152050Hom.: 2652 Cov.: 32 AF XY: 0.181 AC XY: 13435AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at