7-73442826-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_032408.4(BAZ1B):c.3993G>A(p.Val1331=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000209 in 1,611,592 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_032408.4 splice_region, synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAZ1B | NM_032408.4 | c.3993G>A | p.Val1331= | splice_region_variant, synonymous_variant | 18/20 | ENST00000339594.9 | |
BAZ1B | NM_001370402.1 | c.3993G>A | p.Val1331= | splice_region_variant, synonymous_variant | 18/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAZ1B | ENST00000339594.9 | c.3993G>A | p.Val1331= | splice_region_variant, synonymous_variant | 18/20 | 1 | NM_032408.4 | P1 | |
BAZ1B | ENST00000404251.1 | c.3993G>A | p.Val1331= | splice_region_variant, synonymous_variant | 18/19 | 2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000124 AC: 31AN: 250558Hom.: 0 AF XY: 0.0000885 AC XY: 12AN XY: 135526
GnomAD4 exome AF: 0.000221 AC: 322AN: 1459416Hom.: 0 Cov.: 31 AF XY: 0.000229 AC XY: 166AN XY: 725884
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74338
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 07, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at