rs1013697
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007060637.1(LOC124901810):n.572-3648G>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 0.987 in 152,266 control chromosomes in the GnomAD database, including 74,268 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_007060637.1 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 |
---|---|---|---|---|---|---|---|
LOC124901810 | XR_007060637.1 | n.572-3648G>A | intron_variant, non_coding_transcript_variant | ||||
LOC124901810 | XR_007060636.1 | n.456-3648G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.987 AC: 150233AN: 152148Hom.: 74215 Cov.: 31
GnomAD4 genome ? AF: 0.987 AC: 150343AN: 152266Hom.: 74268 Cov.: 31 AF XY: 0.986 AC XY: 73412AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at