11-64270238-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032989.3(BAD):āc.478G>Cā(p.Gly160Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000298 in 1,612,376 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G160V) has been classified as Uncertain significance.
Frequency
Consequence
NM_032989.3 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 |
---|---|---|---|---|---|---|---|
BAD | NM_032989.3 | c.478G>C | p.Gly160Arg | missense_variant | 4/4 | ENST00000309032.8 | |
BAD | NM_004322.3 | c.478G>C | p.Gly160Arg | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAD | ENST00000309032.8 | c.478G>C | p.Gly160Arg | missense_variant | 4/4 | 1 | NM_032989.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152264Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250166Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135292
GnomAD4 exome AF: 0.0000281 AC: 41AN: 1459994Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 725948
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152382Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74520
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 01, 2024 | The c.478G>C (p.G160R) alteration is located in exon 3 (coding exon 3) of the BAD gene. This alteration results from a G to C substitution at nucleotide position 478, causing the glycine (G) at amino acid position 160 to be replaced by an arginine (R). 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