rs8207
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004792.3(PPIG):āc.2095A>Gā(p.Asn699Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.251 in 1,609,656 control chromosomes in the GnomAD database, including 53,281 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_004792.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPIG | NM_004792.3 | c.2095A>G | p.Asn699Asp | missense_variant | 14/14 | ENST00000260970.8 | |
PPIG | XM_005246966.3 | c.2095A>G | p.Asn699Asp | missense_variant | 14/14 | ||
PPIG | XM_005246967.2 | c.2095A>G | p.Asn699Asp | missense_variant | 14/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPIG | ENST00000260970.8 | c.2095A>G | p.Asn699Asp | missense_variant | 14/14 | 1 | NM_004792.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.245 AC: 37162AN: 151944Hom.: 4754 Cov.: 31
GnomAD3 exomes AF: 0.222 AC: 54992AN: 247314Hom.: 6859 AF XY: 0.228 AC XY: 30480AN XY: 133738
GnomAD4 exome AF: 0.252 AC: 367596AN: 1457594Hom.: 48528 Cov.: 36 AF XY: 0.252 AC XY: 182576AN XY: 724944
GnomAD4 genome ? AF: 0.244 AC: 37176AN: 152062Hom.: 4753 Cov.: 31 AF XY: 0.239 AC XY: 17740AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at