chr5-163225545-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000646617.1(ENSG00000254186):n.323-136199G>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 0.389 in 151,840 control chromosomes in the GnomAD database, including 16,519 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
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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 |
---|---|---|---|---|---|---|---|
LOC105377700 | XR_001742961.2 | n.1373+31306G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105377700 | XR_002956233.2 | n.1374-14698G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000646617.1 | n.323-136199G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000509211.1 | n.117+31306G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.389 AC: 59006AN: 151722Hom.: 16482 Cov.: 32
GnomAD4 genome AF: 0.389 AC: 59097AN: 151840Hom.: 16519 Cov.: 32 AF XY: 0.388 AC XY: 28776AN XY: 74216
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at