chr18-5560259-T-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The XR_007066440.1(LOC107985145):n.357-236T>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 0.0148 in 152,180 control chromosomes in the GnomAD database, including 57 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_007066440.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC107985145 | XR_007066440.1 | n.357-236T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPB41L3 | ENST00000545076.5 | c.-306+52081A>C | intron_variant | 2 | |||||
EPB41L3 | ENST00000582592.1 | c.55+17071A>C | intron_variant | 5 | |||||
EPB41L3 | ENST00000637651.1 | c.-306+70118A>C | intron_variant, NMD_transcript_variant | 5 | |||||
EPB41L3 | ENST00000578431.1 | n.324+70118A>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0148 AC: 2248AN: 152062Hom.: 57 Cov.: 32
GnomAD4 genome AF: 0.0148 AC: 2255AN: 152180Hom.: 57 Cov.: 32 AF XY: 0.0142 AC XY: 1055AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at