chr12-80718416-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005593.3(MYF5):āc.560G>Cā(p.Cys187Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,613,144 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005593.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYF5 | NM_005593.3 | c.560G>C | p.Cys187Ser | missense_variant | 2/3 | ENST00000228644.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYF5 | ENST00000228644.4 | c.560G>C | p.Cys187Ser | missense_variant | 2/3 | 1 | NM_005593.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152186Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251466Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135904
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1460958Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 726880
GnomAD4 genome AF: 0.000171 AC: 26AN: 152186Hom.: 1 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 10, 2022 | The c.560G>C (p.C187S) alteration is located in exon 2 (coding exon 2) of the MYF5 gene. This alteration results from a G to C substitution at nucleotide position 560, causing the cysteine (C) at amino acid position 187 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at