rs143205045
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The ENST00000366647.9(GNPAT):āc.1212T>Cā(p.Ala404=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00138 in 1,614,042 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A404A) has been classified as Likely benign.
Frequency
Consequence
ENST00000366647.9 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GNPAT | NM_014236.4 | c.1212T>C | p.Ala404= | synonymous_variant | 9/16 | ENST00000366647.9 | NP_055051.1 | |
GNPAT | NM_001316350.2 | c.1029T>C | p.Ala343= | synonymous_variant | 8/15 | NP_001303279.1 | ||
GNPAT | XM_005273313.5 | c.1209T>C | p.Ala403= | synonymous_variant | 9/16 | XP_005273370.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GNPAT | ENST00000366647.9 | c.1212T>C | p.Ala404= | synonymous_variant | 9/16 | 1 | NM_014236.4 | ENSP00000355607 | P1 | |
GNPAT | ENST00000416000.1 | c.1182T>C | p.Ala394= | synonymous_variant | 9/13 | 5 | ENSP00000411640 | |||
GNPAT | ENST00000492459.1 | n.320T>C | non_coding_transcript_exon_variant | 3/4 | 2 | |||||
GNPAT | ENST00000644483.1 | c.*898T>C | 3_prime_UTR_variant, NMD_transcript_variant | 10/17 | ENSP00000496537 |
Frequencies
GnomAD3 genomes AF: 0.00102 AC: 156AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000819 AC: 206AN: 251436Hom.: 0 AF XY: 0.000787 AC XY: 107AN XY: 135890
GnomAD4 exome AF: 0.00142 AC: 2069AN: 1461722Hom.: 3 Cov.: 31 AF XY: 0.00136 AC XY: 990AN XY: 727168
GnomAD4 genome AF: 0.00102 AC: 156AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.000819 AC XY: 61AN XY: 74492
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2022 | GNPAT: BP4, BP7 - |
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 25, 2024 | - - |
Rhizomelic chondrodysplasia punctata Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Rhizomelic chondrodysplasia punctata type 2 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Sep 05, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at