rs10077875
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001742463.2(LOC102723654):n.2185-1445G>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 0.486 in 151,984 control chromosomes in the GnomAD database, including 18,035 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
XR_001742463.2 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 |
---|---|---|---|---|---|---|---|
LOC102723654 | XR_001742463.2 | n.2185-1445G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102723654 | XR_001742465.2 | n.401-1445G>A | intron_variant, non_coding_transcript_variant | ||||
LOC102723654 | XR_427770.4 | n.337-1445G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.485 AC: 73725AN: 151866Hom.: 18013 Cov.: 32
GnomAD4 genome ? AF: 0.486 AC: 73793AN: 151984Hom.: 18035 Cov.: 32 AF XY: 0.486 AC XY: 36112AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at