10-95202084-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207321.3(ACSM6):c.292G>T(p.Ala98Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000277 in 1,551,928 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 (★).
Frequency
Consequence
NM_207321.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACSM6 | NM_207321.3 | c.292G>T | p.Ala98Ser | missense_variant | 3/11 | ENST00000394005.4 | |
LOC107984257 | XR_007062253.1 | n.347+23464C>A | intron_variant, non_coding_transcript_variant | ||||
ACSM6 | XM_047424638.1 | c.292G>T | p.Ala98Ser | missense_variant | 3/10 | ||
ACSM6 | XM_047424639.1 | c.292G>T | p.Ala98Ser | missense_variant | 2/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSM6 | ENST00000394005.4 | c.292G>T | p.Ala98Ser | missense_variant | 3/11 | 5 | NM_207321.3 | P1 | |
ACSM6 | ENST00000404473.6 | c.*115G>T | 3_prime_UTR_variant, NMD_transcript_variant | 3/10 | 1 | ||||
ACSM6 | ENST00000327739.7 | c.292G>T | p.Ala98Ser | missense_variant, NMD_transcript_variant | 3/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000158 AC: 24AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000317 AC: 5AN: 157786Hom.: 0 AF XY: 0.0000120 AC XY: 1AN XY: 83264
GnomAD4 exome AF: 0.0000136 AC: 19AN: 1399758Hom.: 0 Cov.: 32 AF XY: 0.00000724 AC XY: 5AN XY: 690360
GnomAD4 genome ? AF: 0.000158 AC: 24AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 30, 2022 | The c.292G>T (p.A98S) alteration is located in exon 3 (coding exon 2) of the ACSM6 gene. This alteration results from a G to T substitution at nucleotide position 292, causing the alanine (A) at amino acid position 98 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