rs7628891
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_031419.4(NFKBIZ):c.1825-15C>T variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0222 in 1,539,284 control chromosomes in the GnomAD database, including 600 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
NM_031419.4 splice_polypyrimidine_tract, intron
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 |
---|---|---|---|---|---|---|---|
NFKBIZ | NM_031419.4 | c.1825-15C>T | splice_polypyrimidine_tract_variant, intron_variant | ENST00000326172.9 | |||
NFKBIZ | NM_001005474.3 | c.1525-15C>T | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFKBIZ | ENST00000326172.9 | c.1825-15C>T | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_031419.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0196 AC: 2955AN: 150590Hom.: 52 Cov.: 31
GnomAD3 exomes AF: 0.0208 AC: 4859AN: 233430Hom.: 127 AF XY: 0.0209 AC XY: 2638AN XY: 126452
GnomAD4 exome AF: 0.0225 AC: 31217AN: 1388578Hom.: 548 Cov.: 28 AF XY: 0.0220 AC XY: 15171AN XY: 690548
GnomAD4 genome AF: 0.0196 AC: 2955AN: 150706Hom.: 52 Cov.: 31 AF XY: 0.0211 AC XY: 1547AN XY: 73438
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at