18-45717171-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000589510.5(ENSG00000288545):n.160+20295C>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 0.207 in 127,392 control chromosomes in the GnomAD database, including 3,176 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 |
---|---|---|---|---|---|---|---|
LOC105372092 | XR_935422.3 | n.3818+205G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105372093 | XR_935423.3 | n.826+20295C>G | intron_variant, non_coding_transcript_variant | ||||
LOC105372092 | XR_001753558.2 | n.3818+205G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105372092 | XR_001753559.2 | n.3818+205G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000589510.5 | n.160+20295C>G | intron_variant, non_coding_transcript_variant | 5 | ||||||
SLC14A1 | ENST00000644925.1 | n.194-4826G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.207 AC: 26351AN: 127358Hom.: 3170 Cov.: 26
GnomAD4 genome AF: 0.207 AC: 26362AN: 127392Hom.: 3176 Cov.: 26 AF XY: 0.210 AC XY: 12899AN XY: 61436
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at