rs1001937
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655174.1(ENSG00000262801):n.402-36555G>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 0.459 in 151,772 control chromosomes in the GnomAD database, including 17,083 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 |
---|---|---|---|---|---|---|---|
SHISA9 | XM_011522642.3 | c.1213-36555G>C | intron_variant | ||||
SHISA9 | XM_047434582.1 | c.1213-13307G>C | intron_variant | ||||
SHISA9 | XR_007064905.1 | n.1557-36555G>C | intron_variant, non_coding_transcript_variant | ||||
SHISA9 | XR_932915.3 | n.1557-36555G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000655174.1 | n.402-36555G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.459 AC: 69630AN: 151654Hom.: 17050 Cov.: 30
GnomAD4 genome ? AF: 0.459 AC: 69720AN: 151772Hom.: 17083 Cov.: 30 AF XY: 0.456 AC XY: 33818AN XY: 74150
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at