rs183760043
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015221.4(DNMBP):āc.2108G>Cā(p.Arg703Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R703Q) has been classified as Likely benign.
Frequency
Consequence
NM_015221.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNMBP | NM_015221.4 | c.2108G>C | p.Arg703Pro | missense_variant | Exon 4 of 17 | ENST00000324109.9 | NP_056036.1 | |
DNMBP | XM_011539559.3 | c.2108G>C | p.Arg703Pro | missense_variant | Exon 5 of 18 | XP_011537861.1 | ||
DNMBP | XM_047424910.1 | c.2108G>C | p.Arg703Pro | missense_variant | Exon 5 of 18 | XP_047280866.1 | ||
DNMBP-AS1 | NR_024130.3 | n.177-308C>G | intron_variant | Intron 2 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNMBP | ENST00000324109.9 | c.2108G>C | p.Arg703Pro | missense_variant | Exon 4 of 17 | 1 | NM_015221.4 | ENSP00000315659.4 | ||
DNMBP-AS1 | ENST00000434409.2 | n.173-308C>G | intron_variant | Intron 2 of 4 | 2 | |||||
DNMBP-AS1 | ENST00000661150.1 | n.177-1423C>G | intron_variant | Intron 2 of 2 | ||||||
DNMBP-AS1 | ENST00000661385.1 | n.223-1116C>G | intron_variant | Intron 2 of 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251442Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135892
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at