rs1319797
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000421575.6(ENSG00000228033):n.208-9114C>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 0.586 in 151,936 control chromosomes in the GnomAD database, including 26,432 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 |
---|---|---|---|---|---|---|---|
LOC105369165 | XR_002959384.2 | n.172-15073C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369165 | XR_001739464.3 | n.329-9114C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000421575.6 | n.208-9114C>T | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000443237.1 | n.120-15073C>T | intron_variant, non_coding_transcript_variant | 3 | ||||||
ENST00000668945.1 | n.220-15073C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.586 AC: 88946AN: 151816Hom.: 26417 Cov.: 32
GnomAD4 genome ? AF: 0.586 AC: 89001AN: 151936Hom.: 26432 Cov.: 32 AF XY: 0.582 AC XY: 43180AN XY: 74246
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at