chr18-5555974-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007066440.1(LOC107985145):n.316-2122T>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 0.617 in 152,018 control chromosomes in the GnomAD database, including 29,601 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.316-2122T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPB41L3 | ENST00000545076.5 | c.-306+56366A>G | intron_variant | 2 | |||||
EPB41L3 | ENST00000582592.1 | c.55+21356A>G | intron_variant | 5 | |||||
EPB41L3 | ENST00000637651.1 | c.-305-66813A>G | intron_variant, NMD_transcript_variant | 5 | |||||
EPB41L3 | ENST00000578431.1 | n.325-66813A>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.617 AC: 93719AN: 151900Hom.: 29587 Cov.: 32
GnomAD4 genome AF: 0.617 AC: 93774AN: 152018Hom.: 29601 Cov.: 32 AF XY: 0.616 AC XY: 45770AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at