rs251130
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_040093.1(STARD4-AS1):n.283+11591G>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 0.419 in 152,014 control chromosomes in the GnomAD database, including 17,096 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
Consequence
NR_040093.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
STARD4-AS1 | NR_040093.1 | n.283+11591G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105369177 | XR_948671.3 | n.2264-645G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105369177 | XR_001742458.2 | n.385-645G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STARD4-AS1 | ENST00000500779.2 | n.283+11591G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
STARD4-AS1 | ENST00000666013.1 | n.2113+11591G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.418 AC: 63559AN: 151896Hom.: 17038 Cov.: 32
GnomAD4 genome ? AF: 0.419 AC: 63683AN: 152014Hom.: 17096 Cov.: 32 AF XY: 0.417 AC XY: 30965AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at