rs10487488
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007060511.1(LOC105375490):n.176T>G variant causes a splice region, non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.105 in 152,230 control chromosomes in the GnomAD database, including 892 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_007060511.1 splice_region, 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 |
---|---|---|---|---|---|---|---|
LOC105375490 | XR_007060511.1 | n.176T>G | splice_region_variant, non_coding_transcript_exon_variant | 3/5 | |||
LOC105375490 | XR_001745351.2 | n.2293T>G | splice_region_variant, non_coding_transcript_exon_variant | 3/5 | |||
LOC105375490 | XR_001745352.2 | n.495T>G | splice_region_variant, non_coding_transcript_exon_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.105 AC: 16025AN: 152112Hom.: 890 Cov.: 32
GnomAD4 genome ? AF: 0.105 AC: 16030AN: 152230Hom.: 892 Cov.: 32 AF XY: 0.106 AC XY: 7864AN XY: 74444
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at