rs3959644
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000560034.1(ENSG00000259519):n.192-3924G>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 0.327 in 151,992 control chromosomes in the GnomAD database, including 9,212 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 |
---|---|---|---|---|---|---|---|
SHF | NM_001394041.1 | c.303+2838C>A | intron_variant | ||||
SHF | NM_001394043.1 | c.303+2838C>A | intron_variant | ||||
SHF | NM_001394045.1 | c.303+2838C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000560034.1 | n.192-3924G>T | intron_variant, non_coding_transcript_variant | 5 | ||||||
SHF | ENST00000290894.12 | c.303+2838C>A | intron_variant | 2 | |||||
SHF | ENST00000561278.1 | c.-109+4793C>A | intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.327 AC: 49708AN: 151874Hom.: 9196 Cov.: 33
GnomAD4 genome AF: 0.327 AC: 49740AN: 151992Hom.: 9212 Cov.: 33 AF XY: 0.333 AC XY: 24754AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at