rs13134014
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001741771.2(LOC105377340):n.633+1403C>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 0.16 in 151,990 control chromosomes in the GnomAD database, including 2,092 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_001741771.2 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 |
---|---|---|---|---|---|---|---|
LOC105377340 | XR_001741771.2 | n.633+1403C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377340 | XR_939013.3 | n.678C>T | non_coding_transcript_exon_variant | 4/4 | |||
LOC105377340 | XR_939014.2 | n.191C>T | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.160 AC: 24276AN: 151870Hom.: 2093 Cov.: 31
GnomAD4 genome AF: 0.160 AC: 24296AN: 151990Hom.: 2092 Cov.: 31 AF XY: 0.159 AC XY: 11796AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at