rs847915
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001745093.2(LOC105375156):n.277+554G>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 0.636 in 151,992 control chromosomes in the GnomAD database, including 31,196 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_001745093.2 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 |
---|---|---|---|---|---|---|---|
LOC105375156 | XR_001745093.2 | n.277+554G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102725191 | NM_001386512.1 | c.-154+7893C>T | intron_variant | ||||
LOC105375156 | XR_927037.3 | n.277+554G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105375156 | XR_927039.3 | n.277+554G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000635746.1 | c.-154+7893C>T | intron_variant | 5 | A2 | |||||
ENST00000641054.1 | n.376+7893C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.636 AC: 96651AN: 151874Hom.: 31163 Cov.: 31
GnomAD4 genome AF: 0.636 AC: 96729AN: 151992Hom.: 31196 Cov.: 31 AF XY: 0.632 AC XY: 46975AN XY: 74274
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at