rs12214444
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000707189.1(ENSG00000291336):n.1000-112763C>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 0.123 in 152,182 control chromosomes in the GnomAD database, including 1,199 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000707189.1 | n.1000-112763C>T | intron_variant, non_coding_transcript_variant | ||||||||
ENST00000707191.1 | n.1001-92281C>T | intron_variant, non_coding_transcript_variant | ||||||||
BTN3A3 | ENST00000482451.5 | upstream_gene_variant | 5 | ENSP00000419312 | ||||||
BTN3A3 | ENST00000494393.5 | upstream_gene_variant | 4 | ENSP00000417234 |
Frequencies
GnomAD3 genomes AF: 0.122 AC: 18627AN: 152064Hom.: 1194 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 4Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 4
GnomAD4 genome AF: 0.123 AC: 18654AN: 152182Hom.: 1199 Cov.: 33 AF XY: 0.123 AC XY: 9148AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at