rs6525478
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000664514.3(ENSG00000228427):n.331+2451T>G 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 0.0000185 in 107,871 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC107985688 | XR_001755878.2 | n.285+2451T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000664514.3 | n.331+2451T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000450860.1 | n.267+2451T>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000652147.2 | n.321+2451T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000185 AC: 2AN: 107871Hom.: 0 Cov.: 21 AF XY: 0.0000330 AC XY: 1AN XY: 30323
GnomAD4 genome ? AF: 0.0000185 AC: 2AN: 107871Hom.: 0 Cov.: 21 AF XY: 0.0000330 AC XY: 1AN XY: 30323
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at