rs754412912
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_032013.4(NDRG3):c.871G>T(p.Gly291Trp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,760 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G291R) has been classified as Uncertain significance.
Frequency
Consequence
NM_032013.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDRG3 | ENST00000349004.6 | c.871G>T | p.Gly291Trp | missense_variant | Exon 14 of 16 | 1 | NM_032013.4 | ENSP00000345292.1 | ||
NDRG3 | ENST00000359675.6 | c.835G>T | p.Gly279Trp | missense_variant | Exon 13 of 15 | 1 | ENSP00000352703.2 | |||
NDRG3 | ENST00000373773.7 | c.586G>T | p.Gly196Trp | missense_variant | Exon 11 of 13 | 1 | ENSP00000362878.3 | |||
NDRG3 | ENST00000373803.6 | c.871G>T | p.Gly291Trp | missense_variant | Exon 14 of 17 | 5 | ENSP00000362909.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461760Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727184
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.