rs6978712
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007060511.1(LOC105375490):n.232+1472G>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 0.105 in 152,172 control chromosomes in the GnomAD database, including 893 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 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 |
---|---|---|---|---|---|---|---|
LOC105375490 | XR_007060511.1 | n.232+1472G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105375490 | XR_001745351.2 | n.2349+1472G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105375490 | XR_001745352.2 | n.551+1472G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.105 AC: 16031AN: 152054Hom.: 891 Cov.: 32
GnomAD4 genome ? AF: 0.105 AC: 16036AN: 152172Hom.: 893 Cov.: 32 AF XY: 0.106 AC XY: 7867AN XY: 74398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at