rs6715049
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007088668.1(LOC102724542):n.368-2748T>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 0.366 in 150,720 control chromosomes in the GnomAD database, including 11,306 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_007088668.1 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 |
---|---|---|---|---|---|---|---|
LOC102724542 | XR_007088668.1 | n.368-2748T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102724542 | XR_940294.2 | n.368-2748T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102724542 | XR_940295.2 | n.368-2748T>C | intron_variant, non_coding_transcript_variant | ||||
LOC102724542 | XR_940298.2 | n.368-2748T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.366 AC: 55072AN: 150616Hom.: 11265 Cov.: 29
GnomAD4 genome ? AF: 0.366 AC: 55156AN: 150720Hom.: 11306 Cov.: 29 AF XY: 0.356 AC XY: 26233AN XY: 73610
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at