chr6-155812936-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001744423.2(LOC101928923):n.699-897G>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 0.123 in 152,002 control chromosomes in the GnomAD database, including 1,229 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_001744423.2 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
LOC101928923 | XR_001744423.2 | n.699-897G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105378072 | XR_001744424.2 | n.79+19517C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378072 | XR_007059824.1 | n.79+19517C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.123 AC: 18623AN: 151884Hom.: 1225 Cov.: 31
GnomAD4 genome ? AF: 0.123 AC: 18649AN: 152002Hom.: 1229 Cov.: 31 AF XY: 0.122 AC XY: 9040AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at