rs492594
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021176.3(G6PC2):c.655G>C(p.Val219Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.462 in 1,613,228 control chromosomes in the GnomAD database, including 176,336 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 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_021176.3 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 |
---|---|---|---|---|---|---|---|
G6PC2 | NM_021176.3 | c.655G>C | p.Val219Leu | missense_variant | 5/5 | ENST00000375363.8 | |
G6PC2 | XM_011511564.4 | c.427G>C | p.Val143Leu | missense_variant | 3/3 | ||
G6PC2 | XM_011511565.4 | c.307G>C | p.Val103Leu | missense_variant | 4/4 | ||
G6PC2 | NM_001081686.2 | c.*74G>C | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
G6PC2 | ENST00000375363.8 | c.655G>C | p.Val219Leu | missense_variant | 5/5 | 1 | NM_021176.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.434 AC: 65775AN: 151728Hom.: 14925 Cov.: 31
GnomAD3 exomes AF: 0.498 AC: 125219AN: 251458Hom.: 32625 AF XY: 0.499 AC XY: 67830AN XY: 135896
GnomAD4 exome AF: 0.465 AC: 680170AN: 1461382Hom.: 161410 Cov.: 41 AF XY: 0.469 AC XY: 340807AN XY: 727034
GnomAD4 genome ? AF: 0.433 AC: 65800AN: 151846Hom.: 14926 Cov.: 31 AF XY: 0.442 AC XY: 32773AN XY: 74156
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at