5-179840949-T-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_016175.4(MRNIP):āc.460A>Cā(p.Arg154Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016175.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRNIP | NM_016175.4 | c.460A>C | p.Arg154Arg | synonymous_variant | 6/7 | ENST00000292586.11 | NP_057259.2 | |
MRNIP | NM_001017987.3 | c.295A>C | p.Arg99Arg | synonymous_variant | 4/5 | NP_001017987.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRNIP | ENST00000292586.11 | c.460A>C | p.Arg154Arg | synonymous_variant | 6/7 | 1 | NM_016175.4 | ENSP00000292586.6 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151906Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.00000425 AC: 1AN: 235568Hom.: 0 AF XY: 0.00000782 AC XY: 1AN XY: 127796
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000207 AC: 3AN: 1452722Hom.: 0 Cov.: 39 AF XY: 0.00 AC XY: 0AN XY: 721954
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151906Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74162
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at