5-136736365-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000502421.2(ENSG00000250284):n.79+1360G>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 0.453 in 152,084 control chromosomes in the GnomAD database, including 15,891 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
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 | Protein | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000502421.2 | n.79+1360G>A | intron_variant, non_coding_transcript_variant | 4 | |||||||
ENST00000656447.1 | n.75+1360G>A | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000662288.1 | n.176+1360G>A | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000667761.1 | n.62+1360G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.453 AC: 68845AN: 151966Hom.: 15885 Cov.: 33
GnomAD4 genome AF: 0.453 AC: 68874AN: 152084Hom.: 15891 Cov.: 33 AF XY: 0.451 AC XY: 33566AN XY: 74344
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at