rs6721181
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000599740.1(SLC8A1-AS1):n.73+102031C>T 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 0.0207 in 151,552 control chromosomes in the GnomAD database, including 89 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
ENST00000599740.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC8A1-AS1 | ENST00000599740.1 | n.73+102031C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
SLC8A1-AS1 | ENST00000628471.2 | n.396+36459C>T | intron_variant, non_coding_transcript_variant | 5 | |||||
SLC8A1-AS1 | ENST00000631142.2 | n.401+18882C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0207 AC: 3132AN: 151434Hom.: 89 Cov.: 31
GnomAD4 genome ? AF: 0.0207 AC: 3139AN: 151552Hom.: 89 Cov.: 31 AF XY: 0.0200 AC XY: 1483AN XY: 74074
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at