rs11726338
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Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001127178.3(PIGG):āc.990T>Cā(p.Ser330=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0259 in 1,613,996 control chromosomes in the GnomAD database, including 580 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Genomes: š 0.025 ( 37 hom., cov: 33)
Exomes š: 0.026 ( 543 hom. )
Consequence
PIGG
NM_001127178.3 synonymous
NM_001127178.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -2.36
Genes affected
PIGG (HGNC:25985): (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)) This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -21 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.79).
BP6
?
Variant 4-516061-T-C is Benign according to our data. Variant chr4-516061-T-C is described in ClinVar as [Likely_benign]. Clinvar id is 476358.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
?
Synonymous conserved (PhyloP=-2.36 with no splicing effect.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0252 (3841/152318) while in subpopulation NFE AF= 0.0283 (1927/68016). AF 95% confidence interval is 0.0273. There are 37 homozygotes in gnomad4. There are 1738 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 37 BG,AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIGG | NM_001127178.3 | c.990T>C | p.Ser330= | synonymous_variant | 6/13 | ENST00000453061.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIGG | ENST00000453061.7 | c.990T>C | p.Ser330= | synonymous_variant | 6/13 | 1 | NM_001127178.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0252 AC: 3840AN: 152200Hom.: 37 Cov.: 33
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GnomAD3 exomes AF: 0.0210 AC: 5276AN: 251494Hom.: 73 AF XY: 0.0211 AC XY: 2862AN XY: 135922
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GnomAD4 exome AF: 0.0259 AC: 37915AN: 1461678Hom.: 543 Cov.: 31 AF XY: 0.0257 AC XY: 18668AN XY: 727132
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GnomAD4 genome ? AF: 0.0252 AC: 3841AN: 152318Hom.: 37 Cov.: 33 AF XY: 0.0233 AC XY: 1738AN XY: 74480
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 31, 2021 | - - |
Intellectual disability, autosomal recessive 53 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at