12-107319038-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001018072.2(ABTB3):āc.98A>Gā(p.Asn33Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,613,612 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 (ā ).
Frequency
Consequence
NM_001018072.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABTB3 | NM_001018072.2 | c.98A>G | p.Asn33Ser | missense_variant | 1/17 | ENST00000280758.10 | |
ABTB3 | NM_001347943.2 | c.98A>G | p.Asn33Ser | missense_variant | 1/15 | ||
ABTB3 | XM_047428301.1 | c.98A>G | p.Asn33Ser | missense_variant | 1/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABTB3 | ENST00000280758.10 | c.98A>G | p.Asn33Ser | missense_variant | 1/17 | 5 | NM_001018072.2 | ||
ABTB3 | ENST00000490090.6 | c.98A>G | p.Asn33Ser | missense_variant | 1/15 | 2 | |||
ABTB3 | ENST00000420571.6 | c.98A>G | p.Asn33Ser | missense_variant | 1/15 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152128Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461484Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727042
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152128Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.98A>G (p.N33S) alteration is located in exon 1 (coding exon 1) of the BTBD11 gene. This alteration results from a A to G substitution at nucleotide position 98, causing the asparagine (N) at amino acid position 33 to be replaced by a serine (S). 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