rs2071520
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000649121.1(DELEC1):n.323-23141A>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 0.294 in 151,678 control chromosomes in the GnomAD database, including 6,827 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
ENST00000649121.1 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 |
---|---|---|---|---|---|---|---|
LOC124902255 | XR_007061746.1 | n.188-2443A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DELEC1 | ENST00000649121.1 | n.323-23141A>G | intron_variant, non_coding_transcript_variant | ||||||
DELEC1 | ENST00000648852.1 | n.481-2443A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.294 AC: 44584AN: 151560Hom.: 6820 Cov.: 31
GnomAD4 genome ? AF: 0.294 AC: 44613AN: 151678Hom.: 6827 Cov.: 31 AF XY: 0.297 AC XY: 21992AN XY: 74076
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at