rs62185645
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The ENST00000354764.9(PGAP1):āc.1753C>Gā(p.Gln585Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0054 in 1,606,892 control chromosomes in the GnomAD database, including 35 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. Q585Q) has been classified as Likely benign.
Frequency
Consequence
ENST00000354764.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PGAP1 | NM_024989.4 | c.1753C>G | p.Gln585Glu | missense_variant | 19/27 | ENST00000354764.9 | NP_079265.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PGAP1 | ENST00000354764.9 | c.1753C>G | p.Gln585Glu | missense_variant | 19/27 | 1 | NM_024989.4 | ENSP00000346809 | P1 | |
PGAP1 | ENST00000423035.5 | c.*1684C>G | 3_prime_UTR_variant, NMD_transcript_variant | 20/28 | 1 | ENSP00000415405 | ||||
PGAP1 | ENST00000409475.5 | c.1753C>G | p.Gln585Glu | missense_variant | 19/20 | 2 | ENSP00000387028 | |||
PGAP1 | ENST00000470179.5 | n.1217C>G | non_coding_transcript_exon_variant | 15/22 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00397 AC: 603AN: 152048Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00431 AC: 1079AN: 250400Hom.: 5 AF XY: 0.00432 AC XY: 585AN XY: 135422
GnomAD4 exome AF: 0.00555 AC: 8076AN: 1454726Hom.: 31 Cov.: 28 AF XY: 0.00530 AC XY: 3836AN XY: 724130
GnomAD4 genome AF: 0.00396 AC: 603AN: 152166Hom.: 4 Cov.: 32 AF XY: 0.00398 AC XY: 296AN XY: 74386
ClinVar
Submissions by phenotype
not provided Benign:3
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2024 | PGAP1: BP4, BS2 - |
Likely benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Jul 19, 2017 | - - |
Intellectual disability, autosomal recessive 42 Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 26, 2024 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Jun 02, 2017 | - - |
Hereditary spastic paraplegia Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome Diagnostics Laboratory, The Hospital for Sick Children | Dec 13, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at