chr10-46550406-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001385282.1(GPRIN2):āc.331G>Cā(p.Ala111Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,611,666 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 7/10 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001385282.1 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 |
---|---|---|---|---|---|---|---|
GPRIN2 | NM_001385282.1 | c.331G>C | p.Ala111Pro | missense_variant | 3/3 | ENST00000374314.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPRIN2 | ENST00000374314.6 | c.331G>C | p.Ala111Pro | missense_variant | 3/3 | NM_001385282.1 | P1 | ||
GPRIN2 | ENST00000374317.2 | c.331G>C | p.Ala111Pro | missense_variant | 3/3 | 3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152308Hom.: 0 Cov.: 75
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 245978Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133770
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1459358Hom.: 0 Cov.: 115 AF XY: 0.00000964 AC XY: 7AN XY: 725916
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152308Hom.: 0 Cov.: 75 AF XY: 0.0000134 AC XY: 1AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at