rs10075974
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000507217.5(ENSG00000250049):n.528+29266A>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 0.0574 in 151,810 control chromosomes in the GnomAD database, including 282 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105379080 | XR_001742806.2 | n.5737+29266A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105379080 | XR_007058867.1 | n.5590+29266A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000507217.5 | n.528+29266A>G | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000512210.5 | n.406-34589T>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000513779.1 | n.253-12661T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0575 AC: 8716AN: 151692Hom.: 284 Cov.: 31
GnomAD4 genome ? AF: 0.0574 AC: 8710AN: 151810Hom.: 282 Cov.: 31 AF XY: 0.0570 AC XY: 4231AN XY: 74170
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at