chr5-17116112-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655365.1(BASP1-AS1):n.819-25804G>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 0.286 in 152,130 control chromosomes in the GnomAD database, including 7,264 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
ENST00000655365.1 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 |
---|---|---|---|---|---|---|---|
LOC124900947 | XR_007058707.1 | n.126+1249G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BASP1-AS1 | ENST00000655365.1 | n.819-25804G>A | intron_variant, non_coding_transcript_variant | ||||||
BASP1 | ENST00000606445.1 | c.-73+26951C>T | intron_variant | 3 | |||||
BASP1-AS1 | ENST00000661332.1 | n.204-8802G>A | intron_variant, non_coding_transcript_variant | ||||||
BASP1-AS1 | ENST00000668327.1 | n.816-12208G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.286 AC: 43497AN: 152012Hom.: 7262 Cov.: 32
GnomAD4 genome AF: 0.286 AC: 43507AN: 152130Hom.: 7264 Cov.: 32 AF XY: 0.288 AC XY: 21420AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at