16-20627270-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001318890.3(ACSM1):āc.1346A>Gā(p.Asn449Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000667 in 1,587,462 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001318890.3 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 |
---|---|---|---|---|---|---|---|
ACSM1 | NM_001318890.3 | c.1346A>G | p.Asn449Ser | missense_variant | 11/14 | ENST00000520010.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSM1 | ENST00000520010.6 | c.1346A>G | p.Asn449Ser | missense_variant | 11/14 | 1 | NM_001318890.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000401 AC: 61AN: 152108Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000379 AC: 88AN: 232364Hom.: 0 AF XY: 0.000389 AC XY: 49AN XY: 125988
GnomAD4 exome AF: 0.000695 AC: 998AN: 1435354Hom.: 0 Cov.: 32 AF XY: 0.000677 AC XY: 483AN XY: 713096
GnomAD4 genome ? AF: 0.000401 AC: 61AN: 152108Hom.: 0 Cov.: 31 AF XY: 0.000471 AC XY: 35AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.1346A>G (p.N449S) alteration is located in exon 10 (coding exon 10) of the ACSM1 gene. This alteration results from a A to G substitution at nucleotide position 1346, causing the asparagine (N) at amino acid position 449 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