5-101658510-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007058891.1(LOC105379102):n.389-27301C>T 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 0.0482 in 152,128 control chromosomes in the GnomAD database, including 550 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_007058891.1 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 |
---|---|---|---|---|---|---|---|
LOC105379102 | XR_007058891.1 | n.389-27301C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105379102 | XR_001742829.2 | n.125+20094C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105379102 | XR_948628.3 | n.389-27301C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.0481 AC: 7309AN: 152010Hom.: 549 Cov.: 32
GnomAD4 genome ? AF: 0.0482 AC: 7332AN: 152128Hom.: 550 Cov.: 32 AF XY: 0.0467 AC XY: 3474AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at