NM_198060.4:c.4696C>G
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_198060.4(NRAP):c.4696C>G(p.Arg1566Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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. R1566C) has been classified as Benign.
Frequency
Consequence
NM_198060.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_198060.4. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| NRAP | NM_198060.4 | MANE Select | c.4696C>G | p.Arg1566Gly | missense | Exon 40 of 42 | NP_932326.2 | ||
| NRAP | NM_001261463.2 | c.4696C>G | p.Arg1566Gly | missense | Exon 40 of 42 | NP_001248392.1 | |||
| NRAP | NM_006175.5 | c.4591C>G | p.Arg1531Gly | missense | Exon 39 of 41 | NP_006166.3 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| NRAP | ENST00000359988.4 | TSL:1 MANE Select | c.4696C>G | p.Arg1566Gly | missense | Exon 40 of 42 | ENSP00000353078.3 | ||
| NRAP | ENST00000369358.8 | TSL:1 | c.4696C>G | p.Arg1566Gly | missense | Exon 40 of 42 | ENSP00000358365.4 | ||
| NRAP | ENST00000360478.7 | TSL:1 | c.4591C>G | p.Arg1531Gly | missense | Exon 39 of 41 | ENSP00000353666.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 45
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at