2-218262819-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_170699.3(GPBAR1):āc.95A>Gā(p.Asn32Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000547 in 1,461,270 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_170699.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPBAR1 | ENST00000519574.2 | c.95A>G | p.Asn32Ser | missense_variant | Exon 2 of 2 | 1 | NM_170699.3 | ENSP00000430202.1 | ||
GPBAR1 | ENST00000479077.5 | c.95A>G | p.Asn32Ser | missense_variant | Exon 2 of 2 | 2 | ENSP00000430698.1 | |||
GPBAR1 | ENST00000521462.1 | c.95A>G | p.Asn32Ser | missense_variant | Exon 2 of 2 | 2 | ENSP00000428824.1 | |||
GPBAR1 | ENST00000522678.5 | c.95A>G | p.Asn32Ser | missense_variant | Exon 2 of 2 | 2 | ENSP00000430886.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 247268Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134402
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461270Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 726948
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.95A>G (p.N32S) alteration is located in exon 2 (coding exon 1) of the GPBAR1 gene. This alteration results from a A to G substitution at nucleotide position 95, causing the asparagine (N) at amino acid position 32 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