chr4-42893379-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PS1_ModeratePM2BP4_Strong
The NM_001080476.3(GRXCR1):c.113C>T(p.Pro38Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000121 in 1,613,648 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely pathogenicin UniProt.
Frequency
Consequence
NM_001080476.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRXCR1 | NM_001080476.3 | c.113C>T | p.Pro38Leu | missense_variant | 1/4 | ENST00000399770.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRXCR1 | ENST00000399770.3 | c.113C>T | p.Pro38Leu | missense_variant | 1/4 | 1 | NM_001080476.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152052Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000169 AC: 42AN: 249104Hom.: 0 AF XY: 0.000170 AC XY: 23AN XY: 135124
GnomAD4 exome AF: 0.000121 AC: 177AN: 1461596Hom.: 1 Cov.: 33 AF XY: 0.000127 AC XY: 92AN XY: 727104
GnomAD4 genome AF: 0.000118 AC: 18AN: 152052Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74252
ClinVar
Submissions by phenotype
not provided Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Jul 18, 2022 | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 38 of the GRXCR1 protein (p.Pro38Leu). This variant is present in population databases (rs367784906, gnomAD 0.03%). This missense change has been observed in individual(s) with GRXCR1-related conditions (PMID: 20137774). ClinVar contains an entry for this variant (Variation ID: 498748). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Dec 08, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at