rs201212390
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006310.4(NPEPPS):c.219C>G(p.Asp73Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 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. D73D) has been classified as Likely benign.
Frequency
Consequence
NM_006310.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NPEPPS | NM_006310.4 | c.219C>G | p.Asp73Glu | missense_variant | Exon 1 of 23 | ENST00000322157.9 | NP_006301.3 | |
NPEPPS | NM_001411130.1 | c.219C>G | p.Asp73Glu | missense_variant | Exon 1 of 24 | NP_001398059.1 | ||
NPEPPS | NM_001330257.2 | c.207C>G | p.Asp69Glu | missense_variant | Exon 2 of 24 | NP_001317186.1 | ||
NPEPPS | XM_017025373.1 | c.207C>G | p.Asp69Glu | missense_variant | Exon 2 of 25 | XP_016880862.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NPEPPS | ENST00000322157.9 | c.219C>G | p.Asp73Glu | missense_variant | Exon 1 of 23 | 1 | NM_006310.4 | ENSP00000320324.4 | ||
NPEPPS | ENST00000526247.6 | n.207C>G | non_coding_transcript_exon_variant | Exon 2 of 8 | 3 | ENSP00000433735.1 |
Frequencies
GnomAD3 genomes Cov.: 26
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 26
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at