7-7572909-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_019005.4(MIOS):āc.434G>Cā(p.Trp145Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,848 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_019005.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIOS | NM_019005.4 | c.434G>C | p.Trp145Ser | missense_variant | 4/13 | ENST00000340080.9 | NP_061878.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIOS | ENST00000340080.9 | c.434G>C | p.Trp145Ser | missense_variant | 4/13 | 1 | NM_019005.4 | ENSP00000339881.4 | ||
MIOS | ENST00000405785.5 | c.434G>C | p.Trp145Ser | missense_variant | 3/12 | 5 | ENSP00000384088.1 | |||
MIOS | ENST00000456533.1 | c.434G>C | p.Trp145Ser | missense_variant | 2/2 | 3 | ENSP00000410752.1 | |||
MIOS | ENST00000433635.1 | c.434G>C | p.Trp145Ser | missense_variant | 2/2 | 2 | ENSP00000413050.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461848Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727222
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 20, 2023 | The c.434G>C (p.W145S) alteration is located in exon 4 (coding exon 1) of the MIOS gene. This alteration results from a G to C substitution at nucleotide position 434, causing the tryptophan (W) at amino acid position 145 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
Publications
No publications associated with this variant yet.