rs573727541
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000255.4(MMUT):c.1837C>T(p.Arg613Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000632 in 1,613,892 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R613S) has been classified as Uncertain significance.
Frequency
Consequence
NM_000255.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMUT | NM_000255.4 | c.1837C>T | p.Arg613Cys | missense_variant | 11/13 | ENST00000274813.4 | |
MMUT | XM_005249143.4 | c.1837C>T | p.Arg613Cys | missense_variant | 11/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMUT | ENST00000274813.4 | c.1837C>T | p.Arg613Cys | missense_variant | 11/13 | 1 | NM_000255.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152048Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251208Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135756
GnomAD4 exome AF: 0.0000677 AC: 99AN: 1461726Hom.: 0 Cov.: 31 AF XY: 0.000103 AC XY: 75AN XY: 727174
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at