rs11964561
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000642149.1(ENSG00000232234):n.206+22968G>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 0.0864 in 151,936 control chromosomes in the GnomAD database, including 1,158 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
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 |
---|---|---|---|---|---|---|---|---|
LOC105374910 | XR_001743950.2 | n.187+1647G>A | intron_variant, non_coding_transcript_variant | |||||
LOC105374910 | XR_926440.3 | n.80+11307G>A | intron_variant, non_coding_transcript_variant | |||||
LOC105374910 | XR_926441.3 | n.187+1647G>A | intron_variant, non_coding_transcript_variant | |||||
LOC105374910 | XR_926443.3 | n.80+11307G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000642149.1 | n.206+22968G>A | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000643749.1 | n.142+66715G>A | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000644216.1 | n.954+1647G>A | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000647315.1 | n.179+22968G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0862 AC: 13091AN: 151818Hom.: 1151 Cov.: 32
GnomAD4 genome AF: 0.0864 AC: 13127AN: 151936Hom.: 1158 Cov.: 32 AF XY: 0.0833 AC XY: 6186AN XY: 74230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at