7-73444019-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_032408.4(BAZ1B):c.3955G>A(p.Ala1319Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032408.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BAZ1B | NM_032408.4 | c.3955G>A | p.Ala1319Thr | missense_variant | 17/20 | ENST00000339594.9 | |
BAZ1B | NM_001370402.1 | c.3955G>A | p.Ala1319Thr | missense_variant | 17/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAZ1B | ENST00000339594.9 | c.3955G>A | p.Ala1319Thr | missense_variant | 17/20 | 1 | NM_032408.4 | P1 | |
BAZ1B | ENST00000404251.1 | c.3955G>A | p.Ala1319Thr | missense_variant | 17/19 | 2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250962Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135624
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461512Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727042
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 15, 2023 | The c.3955G>A (p.A1319T) alteration is located in exon 17 (coding exon 17) of the BAZ1B gene. This alteration results from a G to A substitution at nucleotide position 3955, causing the alanine (A) at amino acid position 1319 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at