rs305375
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000418257.1(IFIT6P):n.774T>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000526 in 152,056 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000418257.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFIT6P | ENST00000418257.1 | n.774T>A | non_coding_transcript_exon_variant | 1/1 | |||||
LIPA | ENST00000371837.5 | c.61+49724A>T | intron_variant | 2 | |||||
IFIT3 | ENST00000679438.1 | c.-15-6372T>A | intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152056Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 74442Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 43036
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152056Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74284
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at