rs1305058
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The XR_007058804.1(LOC105379013):n.474-9454_474-9453insTGGAG variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000046 ( 0 hom., cov: 0)
Consequence
LOC105379013
XR_007058804.1 intron, non_coding_transcript
XR_007058804.1 intron, non_coding_transcript
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0820
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105379013 | XR_007058804.1 | n.474-9454_474-9453insTGGAG | intron_variant, non_coding_transcript_variant | ||||
LOC105379013 | XR_007058805.1 | n.144-9454_144-9453insTGGAG | intron_variant, non_coding_transcript_variant | ||||
LOC105379013 | XR_007058806.1 | n.2260-9454_2260-9453insTGGAG | intron_variant, non_coding_transcript_variant | ||||
LOC105379013 | XR_948413.3 | n.12534+1855_12534+1856insTGGAG | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152116Hom.: 0 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152116Hom.: 0 Cov.: 0 AF XY: 0.0000673 AC XY: 5AN XY: 74294
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at