rs1984620
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000609088.1(ENSG00000273388):n.94+5118G>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 0.356 in 152,006 control chromosomes in the GnomAD database, including 10,433 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 |
---|---|---|---|---|---|---|---|
LOC107985004 | XR_007065617.1 | n.95+5118G>A | intron_variant, non_coding_transcript_variant | ||||
LOC107985004 | XR_001752791.3 | n.95+5118G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000609088.1 | n.94+5118G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.356 AC: 54102AN: 151888Hom.: 10436 Cov.: 32
GnomAD4 genome ? AF: 0.356 AC: 54121AN: 152006Hom.: 10433 Cov.: 32 AF XY: 0.351 AC XY: 26050AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at