rs2202507
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_939273.3(LOC105377462):n.241-53343A>C 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 0.404 in 151,970 control chromosomes in the GnomAD database, including 14,361 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_939273.3 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 |
---|---|---|---|---|---|---|---|
LOC105377462 | XR_939273.3 | n.241-53343A>C | intron_variant, non_coding_transcript_variant | ||||
LOC105377462 | XR_939272.3 | n.315-53343A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000648340.1 | n.215-53343A>C | intron_variant, non_coding_transcript_variant | |||||||
GUSBP5 | ENST00000651102.1 | n.1992-5630T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.404 AC: 61420AN: 151852Hom.: 14344 Cov.: 32
GnomAD4 genome AF: 0.404 AC: 61446AN: 151970Hom.: 14361 Cov.: 32 AF XY: 0.410 AC XY: 30470AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at