chr12-107319758-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001018072.2(ABTB3):c.818G>A(p.Gly273Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000171 in 1,505,600 control chromosomes in the GnomAD database, including 2 homozygotes. 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABTB3 | NM_001018072.2 | c.818G>A | p.Gly273Asp | missense_variant | 1/17 | ENST00000280758.10 | |
ABTB3 | NM_001347943.2 | c.818G>A | p.Gly273Asp | missense_variant | 1/15 | ||
ABTB3 | XM_047428301.1 | c.818G>A | p.Gly273Asp | missense_variant | 1/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABTB3 | ENST00000280758.10 | c.818G>A | p.Gly273Asp | missense_variant | 1/17 | 5 | NM_001018072.2 | ||
ABTB3 | ENST00000490090.6 | c.818G>A | p.Gly273Asp | missense_variant | 1/15 | 2 | |||
ABTB3 | ENST00000420571.6 | c.818G>A | p.Gly273Asp | missense_variant | 1/15 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000858 AC: 13AN: 151502Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000299 AC: 32AN: 106980Hom.: 1 AF XY: 0.000370 AC XY: 22AN XY: 59476
GnomAD4 exome AF: 0.000181 AC: 245AN: 1353990Hom.: 2 Cov.: 31 AF XY: 0.000241 AC XY: 161AN XY: 666696
GnomAD4 genome ? AF: 0.0000857 AC: 13AN: 151610Hom.: 0 Cov.: 31 AF XY: 0.000121 AC XY: 9AN XY: 74100
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2021 | The c.818G>A (p.G273D) alteration is located in exon 1 (coding exon 1) of the BTBD11 gene. This alteration results from a G to A substitution at nucleotide position 818, causing the glycine (G) at amino acid position 273 to be replaced by an aspartic acid (D). 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