chr16-64475513-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000564046.1(ENSG00000259846):n.117-176G>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 0.0441 in 152,046 control chromosomes in the GnomAD database, including 440 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
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 |
---|---|---|---|---|---|---|---|
LOC105371310 | XR_001752234.1 | n.207-176G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105371310 | XR_001752233.1 | n.225-176G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105371310 | XR_001752236.1 | n.291-176G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000564046.1 | n.117-176G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0440 AC: 6691AN: 151936Hom.: 440 Cov.: 32
GnomAD4 genome AF: 0.0441 AC: 6698AN: 152046Hom.: 440 Cov.: 32 AF XY: 0.0447 AC XY: 3320AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at