5-79690007-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153610.5(CMYA5):c.100G>A(p.Gly34Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000188 in 1,327,940 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_153610.5 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CMYA5 | NM_153610.5 | c.100G>A | p.Gly34Ser | missense_variant | 1/13 | ENST00000446378.3 | NP_705838.3 | |
CMYA5 | XM_047416911.1 | c.100G>A | p.Gly34Ser | missense_variant | 1/6 | XP_047272867.1 | ||
CMYA5 | XR_001742036.3 | n.172G>A | non_coding_transcript_exon_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMYA5 | ENST00000446378.3 | c.100G>A | p.Gly34Ser | missense_variant | 1/13 | 5 | NM_153610.5 | ENSP00000394770 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000197 AC: 2AN: 101406Hom.: 0 AF XY: 0.0000184 AC XY: 1AN XY: 54264
GnomAD4 exome AF: 0.0000188 AC: 25AN: 1327940Hom.: 0 Cov.: 22 AF XY: 0.0000183 AC XY: 12AN XY: 654492
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 30, 2024 | The c.100G>A (p.G34S) alteration is located in exon 1 (coding exon 1) of the CMYA5 gene. This alteration results from a G to A substitution at nucleotide position 100, causing the glycine (G) at amino acid position 34 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