rs2358462
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000661928.1(ENSG00000287292):n.222+104944T>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 0.36 in 152,038 control chromosomes in the GnomAD database, including 10,552 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 |
---|---|---|---|---|---|---|---|
LOC107986195 | XR_001741441.2 | n.3661+104944T>C | intron_variant, non_coding_transcript_variant | ||||
LOC105377483 | XR_007058326.1 | n.319-30727A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105377483 | XR_939336.4 | n.319-30660A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000661928.1 | n.222+104944T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.361 AC: 54779AN: 151918Hom.: 10546 Cov.: 32
GnomAD4 genome ? AF: 0.360 AC: 54806AN: 152038Hom.: 10552 Cov.: 32 AF XY: 0.355 AC XY: 26360AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at