chr18-5560259-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007066440.1(LOC107985145):n.357-236T>C 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 0.809 in 152,142 control chromosomes in the GnomAD database, including 50,933 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 -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC107985145 | XR_007066440.1 | n.357-236T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPB41L3 | ENST00000545076.5 | c.-306+52081A>G | intron_variant | 2 | |||||
EPB41L3 | ENST00000582592.1 | c.55+17071A>G | intron_variant | 5 | |||||
EPB41L3 | ENST00000637651.1 | c.-306+70118A>G | intron_variant, NMD_transcript_variant | 5 | |||||
EPB41L3 | ENST00000578431.1 | n.324+70118A>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.809 AC: 122930AN: 152024Hom.: 50906 Cov.: 32
GnomAD4 genome ? AF: 0.809 AC: 123013AN: 152142Hom.: 50933 Cov.: 32 AF XY: 0.809 AC XY: 60199AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at