rs11228580
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007062756.1(LOC105369367):n.54+6A>G variant causes a splice donor region, intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.149 in 152,074 control chromosomes in the GnomAD database, including 1,817 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_007062756.1 splice_donor_region, 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 |
---|---|---|---|---|---|---|---|
LOC105369367 | XR_007062756.1 | n.54+6A>G | splice_donor_region_variant, intron_variant, non_coding_transcript_variant | ||||
LOC105369367 | XR_007062755.1 | n.54+6A>G | splice_donor_region_variant, intron_variant, non_coding_transcript_variant | ||||
LOC105369367 | XR_007062758.1 | n.54+6A>G | splice_donor_region_variant, intron_variant, non_coding_transcript_variant | ||||
LOC105369367 | XR_950259.2 | n.54+6A>G | splice_donor_region_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.149 AC: 22690AN: 151954Hom.: 1817 Cov.: 31
GnomAD4 genome ? AF: 0.149 AC: 22702AN: 152074Hom.: 1817 Cov.: 31 AF XY: 0.145 AC XY: 10765AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at