rs1928393
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000686875.1(ENSG00000230490):n.144-50879G>T 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 0.242 in 151,792 control chromosomes in the GnomAD database, including 5,352 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 |
---|---|---|---|---|---|---|---|
LOC102723406 | XR_007063750.1 | n.353+4408C>A | intron_variant, non_coding_transcript_variant | ||||
STARD13 | NM_001243476.3 | c.-105-50879G>T | intron_variant | ||||
STARD13 | XM_017020835.3 | c.-105-50879G>T | intron_variant | ||||
LOC102723406 | XR_001749811.2 | n.250+4408C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000686875.1 | n.144-50879G>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000454681.2 | n.92-50879G>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.242 AC: 36702AN: 151674Hom.: 5323 Cov.: 31
GnomAD4 genome AF: 0.242 AC: 36791AN: 151792Hom.: 5352 Cov.: 31 AF XY: 0.240 AC XY: 17805AN XY: 74174
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at