rs762080
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_938590.3(LOC102723546):n.1999G>T 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 0.279 in 110,438 control chromosomes in the GnomAD database, including 3,515 homozygotes. There are 8,615 hemizygotes in GnomAD. 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
XR_938590.3 non_coding_transcript_exon
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 |
---|---|---|---|---|---|---|---|
LOC102723546 | XR_938590.3 | n.1999G>T | non_coding_transcript_exon_variant | 1/4 | |||
LOC107985705 | XR_001755967.2 | n.4901+4220C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000668852.1 | n.309+4220C>A | intron_variant, non_coding_transcript_variant | |||||||
IGSF1 | ENST00000370904.6 | c.-912-352G>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.278 AC: 30731AN: 110385Hom.: 3510 Cov.: 23 AF XY: 0.263 AC XY: 8588AN XY: 32639
GnomAD4 genome ? AF: 0.279 AC: 30762AN: 110438Hom.: 3515 Cov.: 23 AF XY: 0.263 AC XY: 8615AN XY: 32702
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at