NM_001142966.3:c.203G>T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 1P and 7B. PP2BP4_ModerateBP6BS2
The NM_001142966.3(GREB1L):c.203G>T(p.Arg68Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000143 in 1,551,274 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001142966.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GREB1L | NM_001142966.3 | c.203G>T | p.Arg68Leu | missense_variant | Exon 4 of 33 | ENST00000424526.7 | NP_001136438.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000831 AC: 13AN: 156492Hom.: 0 AF XY: 0.0000723 AC XY: 6AN XY: 82940
GnomAD4 exome AF: 0.000145 AC: 203AN: 1399040Hom.: 0 Cov.: 31 AF XY: 0.000116 AC XY: 80AN XY: 690054
GnomAD4 genome AF: 0.000125 AC: 19AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74450
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
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GREB1L-related disorder Uncertain:1
The GREB1L c.203G>T variant is predicted to result in the amino acid substitution p.Arg68Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-18964212-G-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at