rs1983132
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000656694.1(ENSG00000287544):n.112+2413G>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 0.228 in 150,950 control chromosomes in the GnomAD database, including 5,132 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 | UniProt |
---|---|---|---|---|---|---|---|
LOC105377557 | XR_001741925.2 | n.234+2413G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105377557 | XR_007058380.1 | n.234+2413G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000656694.1 | n.112+2413G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000662794.1 | n.61+2413G>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000667713.1 | n.207+2413G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.228 AC: 34389AN: 150832Hom.: 5098 Cov.: 32
GnomAD4 genome ? AF: 0.228 AC: 34472AN: 150950Hom.: 5132 Cov.: 32 AF XY: 0.232 AC XY: 17061AN XY: 73672
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at