chr17-29590753-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000487527.5(ANKRD13B):n.80+891A>G 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 0.653 in 151,772 control chromosomes in the GnomAD database, including 32,504 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
ENST00000487527.5 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD13B | ENST00000487527.5 | n.80+891A>G | intron_variant, non_coding_transcript_variant | 1 | |||||
ABHD15-AS1 | ENST00000581474.1 | n.153+30054A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
GIT1 | ENST00000583413.4 | c.88+3189T>C | intron_variant | 4 | |||||
ANKRD13B | ENST00000583728.5 | c.-283+891A>G | intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.653 AC: 99038AN: 151654Hom.: 32471 Cov.: 30
GnomAD4 genome AF: 0.653 AC: 99110AN: 151772Hom.: 32504 Cov.: 30 AF XY: 0.651 AC XY: 48306AN XY: 74152
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at