16-20661849-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001318890.3(ACSM1):c.937C>A(p.His313Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000138 in 1,606,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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.937C>A | p.His313Asn | missense_variant | 7/14 | ENST00000520010.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSM1 | ENST00000520010.6 | c.937C>A | p.His313Asn | missense_variant | 7/14 | 1 | NM_001318890.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 152096Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000920 AC: 23AN: 250066Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135152
GnomAD4 exome AF: 0.000140 AC: 203AN: 1454236Hom.: 0 Cov.: 28 AF XY: 0.000148 AC XY: 107AN XY: 722732
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74424
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 03, 2022 | The c.937C>A (p.H313N) alteration is located in exon 6 (coding exon 6) of the ACSM1 gene. This alteration results from a C to A substitution at nucleotide position 937, causing the histidine (H) at amino acid position 313 to be replaced by an asparagine (N). 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