rs10857810
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000554749.1(ENSG00000258634):n.836C>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.211 in 152,174 control chromosomes in the GnomAD database, including 3,874 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000554749.1 | n.836C>G | non_coding_transcript_exon_variant | 1/1 | ||||||
STRIP1 | ENST00000473429.5 | n.4213+4373C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.211 AC: 32058AN: 151994Hom.: 3870 Cov.: 32
GnomAD4 exome AF: 0.145 AC: 9AN: 62Hom.: 0 Cov.: 0 AF XY: 0.146 AC XY: 7AN XY: 48
GnomAD4 genome ? AF: 0.211 AC: 32084AN: 152112Hom.: 3874 Cov.: 32 AF XY: 0.216 AC XY: 16057AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at