ENST00000508414.5:n.336+6655T>G
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000508414.5(ENSG00000293005):n.336+6655T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000263 in 151,944 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000508414.5 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000293005 | ENST00000508414.5 | n.336+6655T>G | intron_variant | Intron 2 of 2 | 3 | |||||
ENSG00000293005 | ENST00000509983.2 | n.398+6655T>G | intron_variant | Intron 2 of 2 | 3 | |||||
ENSG00000293005 | ENST00000775331.1 | n.545+6655T>G | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151944Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151944Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74198 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at