chr12-107319740-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001018072.2(ABTB3):c.800G>T(p.Gly267Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000146 in 1,373,988 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001018072.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABTB3 | NM_001018072.2 | c.800G>T | p.Gly267Val | missense_variant | 1/17 | ENST00000280758.10 | |
ABTB3 | NM_001347943.2 | c.800G>T | p.Gly267Val | missense_variant | 1/15 | ||
ABTB3 | XM_047428301.1 | c.800G>T | p.Gly267Val | missense_variant | 1/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABTB3 | ENST00000280758.10 | c.800G>T | p.Gly267Val | missense_variant | 1/17 | 5 | NM_001018072.2 | ||
ABTB3 | ENST00000490090.6 | c.800G>T | p.Gly267Val | missense_variant | 1/15 | 2 | |||
ABTB3 | ENST00000420571.6 | c.800G>T | p.Gly267Val | missense_variant | 1/15 | 5 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1373988Hom.: 0 Cov.: 32 AF XY: 0.00000295 AC XY: 2AN XY: 677126
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 16, 2023 | The c.800G>T (p.G267V) alteration is located in exon 1 (coding exon 1) of the BTBD11 gene. This alteration results from a G to T substitution at nucleotide position 800, causing the glycine (G) at amino acid position 267 to be replaced by a valine (V). 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