rs10104895
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000526936.5(ENSG00000254777):n.177-1245G>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 0.196 in 152,150 control chromosomes in the GnomAD database, including 3,456 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000526936.5 | n.177-1245G>A | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000527672.1 | n.324-1245G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.196 AC: 29746AN: 151882Hom.: 3441 Cov.: 31
GnomAD4 exome AF: 0.153 AC: 23AN: 150Hom.: 2 AF XY: 0.140 AC XY: 14AN XY: 100
GnomAD4 genome ? AF: 0.196 AC: 29787AN: 152000Hom.: 3454 Cov.: 31 AF XY: 0.196 AC XY: 14553AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at