rs2008645
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_936812.3(LOC105372643):n.1194+392G>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 0.536 in 152,062 control chromosomes in the GnomAD database, including 23,885 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
XR_936812.3 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 |
---|---|---|---|---|---|---|---|
LOC105372643 | XR_936812.3 | n.1194+392G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105372643 | XR_001754655.2 | n.1194+392G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105372643 | XR_007067635.1 | n.981+392G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105372643 | XR_007067636.1 | n.981+392G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.536 AC: 81423AN: 151944Hom.: 23841 Cov.: 32
GnomAD4 genome ? AF: 0.536 AC: 81536AN: 152062Hom.: 23885 Cov.: 32 AF XY: 0.527 AC XY: 39196AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at