rs768763
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007058748.1(LOC102723740):n.116+1381T>C 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 0.146 in 152,174 control chromosomes in the GnomAD database, including 1,887 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_007058748.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC102723740 | XR_007058748.1 | n.116+1381T>C | intron_variant, non_coding_transcript_variant | |||||
LOC124900969 | XR_007058749.1 | n.64-4432A>G | intron_variant, non_coding_transcript_variant | |||||
LOC102723740 | XR_925953.3 | n.247+549T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.146 AC: 22205AN: 152054Hom.: 1892 Cov.: 31
GnomAD4 genome AF: 0.146 AC: 22195AN: 152174Hom.: 1887 Cov.: 31 AF XY: 0.147 AC XY: 10935AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at