rs2718812
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000460564.5(ENSG00000291042):n.37-7334C>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 0.529 in 151,922 control chromosomes in the GnomAD database, including 22,144 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
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 |
---|---|---|---|---|---|---|---|
TF | NM_001354703.2 | c.-1112-7334C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000460564.5 | n.37-7334C>T | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000490470.5 | n.37-7334C>T | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000497521.5 | n.36-7334C>T | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000687252.2 | n.109-7334C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.529 AC: 80267AN: 151804Hom.: 22103 Cov.: 31
GnomAD4 genome AF: 0.529 AC: 80370AN: 151922Hom.: 22144 Cov.: 31 AF XY: 0.530 AC XY: 39349AN XY: 74240
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at