4-8581275-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080819.5(GPR78):c.293C>T(p.Ala98Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000111 in 1,435,990 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080819.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR78 | ENST00000382487.5 | c.293C>T | p.Ala98Val | missense_variant | Exon 1 of 3 | 1 | NM_080819.5 | ENSP00000371927.4 | ||
GPR78 | ENST00000509216.1 | n.468+571C>T | intron_variant | Intron 1 of 2 | 1 | |||||
GPR78 | ENST00000514302.5 | n.293C>T | non_coding_transcript_exon_variant | Exon 2 of 14 | 2 | ENSP00000424326.1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.0000197 AC: 4AN: 202554Hom.: 0 AF XY: 0.0000357 AC XY: 4AN XY: 112120
GnomAD4 exome AF: 0.0000111 AC: 16AN: 1435990Hom.: 0 Cov.: 36 AF XY: 0.0000154 AC XY: 11AN XY: 713530
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.293C>T (p.A98V) alteration is located in exon 1 (coding exon 1) of the GPR78 gene. This alteration results from a C to T substitution at nucleotide position 293, causing the alanine (A) at amino acid position 98 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