15-52218538-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018728.4(MYO5C):c.3935G>A(p.Arg1312Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000958 in 1,461,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018728.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO5C | NM_018728.4 | c.3935G>A | p.Arg1312Gln | missense_variant | 32/41 | ENST00000261839.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO5C | ENST00000261839.12 | c.3935G>A | p.Arg1312Gln | missense_variant | 32/41 | 1 | NM_018728.4 | P1 | |
MYO5C | ENST00000560809.5 | c.*2808G>A | 3_prime_UTR_variant, NMD_transcript_variant | 30/38 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 249360Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135292
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461828Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727212
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 23, 2021 | The c.3935G>A (p.R1312Q) alteration is located in exon 32 (coding exon 32) of the MYO5C gene. This alteration results from a G to A substitution at nucleotide position 3935, causing the arginine (R) at amino acid position 1312 to be replaced by a glutamine (Q). 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