10-95194544-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207321.3(ACSM6):āc.59C>Gā(p.Ala20Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000214 in 1,399,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_207321.3 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACSM6 | NM_207321.3 | c.59C>G | p.Ala20Gly | missense_variant | 2/11 | ENST00000394005.4 | NP_997204.2 | |
LOC107984257 | XR_007062253.1 | n.348-21357G>C | intron_variant, non_coding_transcript_variant | |||||
ACSM6 | XM_047424638.1 | c.59C>G | p.Ala20Gly | missense_variant | 2/10 | XP_047280594.1 | ||
ACSM6 | XM_047424639.1 | c.59C>G | p.Ala20Gly | missense_variant | 1/9 | XP_047280595.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACSM6 | ENST00000394005.4 | c.59C>G | p.Ala20Gly | missense_variant | 2/11 | 5 | NM_207321.3 | ENSP00000377573 | P1 | |
ACSM6 | ENST00000404473.6 | c.59C>G | p.Ala20Gly | missense_variant, NMD_transcript_variant | 1/10 | 1 | ENSP00000384922 | |||
ACSM6 | ENST00000327739.7 | c.59C>G | p.Ala20Gly | missense_variant, NMD_transcript_variant | 2/9 | 2 | ENSP00000328491 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000127 AC: 2AN: 157478Hom.: 0 AF XY: 0.0000120 AC XY: 1AN XY: 83234
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1399518Hom.: 0 Cov.: 41 AF XY: 0.00000145 AC XY: 1AN XY: 690296
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 25, 2022 | The c.59C>G (p.A20G) alteration is located in exon 2 (coding exon 1) of the ACSM6 gene. This alteration results from a C to G substitution at nucleotide position 59, causing the alanine (A) at amino acid position 20 to be replaced by a glycine (G). 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