2-34723336-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007086277.1(LOC105374458):n.571+5825G>A 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 0.212 in 152,112 control chromosomes in the GnomAD database, including 3,891 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_007086277.1 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 |
---|---|---|---|---|---|---|---|
LOC105374458 | XR_007086277.1 | n.571+5825G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374458 | XR_002959378.2 | n.607+5825G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01320 | ENST00000659537.1 | n.1456C>T | non_coding_transcript_exon_variant | 2/2 | |||||
LINC01320 | ENST00000453774.2 | n.351-9112C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC01320 | ENST00000603129.6 | n.307+1215C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.212 AC: 32223AN: 151994Hom.: 3892 Cov.: 32
GnomAD4 genome AF: 0.212 AC: 32225AN: 152112Hom.: 3891 Cov.: 32 AF XY: 0.207 AC XY: 15379AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at