rs9379174
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000642149.1(ENSG00000232234):n.207-16390C>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 0.239 in 152,052 control chromosomes in the GnomAD database, including 4,452 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 |
---|---|---|---|---|---|---|---|
LOC105374910 | XR_001743950.2 | n.188-16390C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105374910 | XR_926440.3 | n.81-7573C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105374910 | XR_926441.3 | n.188-16390C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105374910 | XR_926443.3 | n.81-16390C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000642149.1 | n.207-16390C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000439891.3 | n.61-7573C>T | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000643749.1 | n.143-16390C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000647315.1 | n.180-16390C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.239 AC: 36312AN: 151934Hom.: 4451 Cov.: 32
GnomAD4 genome ? AF: 0.239 AC: 36330AN: 152052Hom.: 4452 Cov.: 32 AF XY: 0.236 AC XY: 17562AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at