chr9-26379842-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001746566.2(LOC105375999):n.342-33554C>T 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 0.185 in 152,076 control chromosomes in the GnomAD database, including 6,732 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_001746566.2 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 |
---|---|---|---|---|---|---|---|
LOC105375999 | XR_001746566.2 | n.342-33554C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375999 | XR_001746565.1 | n.372-33554C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375999 | XR_001746567.1 | n.464-33554C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.185 AC: 28067AN: 151958Hom.: 6714 Cov.: 33
GnomAD4 genome AF: 0.185 AC: 28135AN: 152076Hom.: 6732 Cov.: 33 AF XY: 0.180 AC XY: 13353AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at