rs2866845
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000573369.5(ENSG00000262267):n.702-4176T>C 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 0.69 in 152,078 control chromosomes in the GnomAD database, including 36,890 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000573369.5 | n.702-4176T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000576944.1 | n.384-4176T>C | intron_variant, non_coding_transcript_variant | 4 | ||||||
ENST00000659657.1 | n.335-4176T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.691 AC: 104936AN: 151960Hom.: 36886 Cov.: 32
GnomAD4 genome AF: 0.690 AC: 104987AN: 152078Hom.: 36890 Cov.: 32 AF XY: 0.694 AC XY: 51614AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at