NM_004204.5:c.1461C>G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_004204.5(PIGQ):c.1461C>G(p.Leu487Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.183 in 1,602,088 control chromosomes in the GnomAD database, including 28,860 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. L487L) has been classified as Likely benign.
Frequency
Consequence
NM_004204.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.166 AC: 25175AN: 152068Hom.: 2295 Cov.: 33
GnomAD3 exomes AF: 0.160 AC: 40039AN: 249526Hom.: 3811 AF XY: 0.169 AC XY: 22841AN XY: 135100
GnomAD4 exome AF: 0.185 AC: 268764AN: 1449902Hom.: 26562 Cov.: 29 AF XY: 0.188 AC XY: 135640AN XY: 721910
GnomAD4 genome AF: 0.166 AC: 25193AN: 152186Hom.: 2298 Cov.: 33 AF XY: 0.164 AC XY: 12214AN XY: 74388
ClinVar
Submissions by phenotype
not provided Benign:2
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Epilepsy Benign:1
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Developmental and epileptic encephalopathy, 77 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at