chr10-95210672-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207321.3(ACSM6):c.634T>C(p.Tyr212His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,586 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 (★).
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 | UniProt |
---|---|---|---|---|---|---|---|
ACSM6 | NM_207321.3 | c.634T>C | p.Tyr212His | missense_variant | 5/11 | ENST00000394005.4 | |
LOC107984257 | XR_007062253.1 | n.347+14876A>G | intron_variant, non_coding_transcript_variant | ||||
ACSM6 | XM_047424638.1 | c.634T>C | p.Tyr212His | missense_variant | 5/10 | ||
ACSM6 | XM_047424639.1 | c.634T>C | p.Tyr212His | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSM6 | ENST00000394005.4 | c.634T>C | p.Tyr212His | missense_variant | 5/11 | 5 | NM_207321.3 | P1 | |
ACSM6 | ENST00000404473.6 | c.*457T>C | 3_prime_UTR_variant, NMD_transcript_variant | 5/10 | 1 | ||||
ACSM6 | ENST00000327739.7 | c.*198T>C | 3_prime_UTR_variant, NMD_transcript_variant | 5/9 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250936Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135596
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461586Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727088
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 22, 2024 | The c.634T>C (p.Y212H) alteration is located in exon 5 (coding exon 4) of the ACSM6 gene. This alteration results from a T to C substitution at nucleotide position 634, causing the tyrosine (Y) at amino acid position 212 to be replaced by a histidine (H). 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