rs13171512
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000688207.1(ENSG00000250237):n.66-51689G>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 0.694 in 152,078 control chromosomes in the GnomAD database, including 38,411 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105379013 | XR_007058804.1 | n.441-51689G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105379013 | XR_007058805.1 | n.111-51689G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000688207.1 | n.66-51689G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.694 AC: 105489AN: 151960Hom.: 38410 Cov.: 32
GnomAD4 genome AF: 0.694 AC: 105516AN: 152078Hom.: 38411 Cov.: 32 AF XY: 0.690 AC XY: 51315AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at