NM_001031.5:c.6C>G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001031.5(RPS28):āc.6C>Gā(p.Asp2Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000697 in 1,435,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D2D) has been classified as Likely benign.
Frequency
Consequence
NM_001031.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPS28 | NM_001031.5 | c.6C>G | p.Asp2Glu | missense_variant | Exon 1 of 4 | ENST00000600659.3 | NP_001022.1 | |
RPS28 | XM_047439201.1 | c.6C>G | p.Asp2Glu | missense_variant | Exon 1 of 3 | XP_047295157.1 | ||
NDUFA7 | NM_005001.5 | c.-178G>C | upstream_gene_variant | ENST00000301457.3 | NP_004992.2 | |||
NDUFA7 | NR_135539.2 | n.-161G>C | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPS28 | ENST00000600659.3 | c.6C>G | p.Asp2Glu | missense_variant | Exon 1 of 4 | 1 | NM_001031.5 | ENSP00000472469.1 | ||
NDUFA7 | ENST00000301457.3 | c.-178G>C | upstream_gene_variant | 1 | NM_005001.5 | ENSP00000301457.1 | ||||
ENSG00000167774 | ENST00000598884.1 | n.-178G>C | upstream_gene_variant | 4 | ENSP00000470609.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.97e-7 AC: 1AN: 1435228Hom.: 0 Cov.: 33 AF XY: 0.00000141 AC XY: 1AN XY: 711602
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.