chr10-95211888-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_207321.3(ACSM6):c.766G>T(p.Asp256Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,180 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D256V) has been classified 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACSM6 | NM_207321.3 | c.766G>T | p.Asp256Tyr | missense_variant | 6/11 | ENST00000394005.4 | |
LOC107984257 | XR_007062253.1 | n.347+13660C>A | intron_variant, non_coding_transcript_variant | ||||
ACSM6 | XM_047424638.1 | c.766G>T | p.Asp256Tyr | missense_variant | 6/10 | ||
ACSM6 | XM_047424639.1 | c.766G>T | p.Asp256Tyr | missense_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSM6 | ENST00000394005.4 | c.766G>T | p.Asp256Tyr | missense_variant | 6/11 | 5 | NM_207321.3 | P1 | |
ACSM6 | ENST00000404473.6 | c.*589G>T | 3_prime_UTR_variant, NMD_transcript_variant | 6/10 | 1 | ||||
ACSM6 | ENST00000327739.7 | c.*330G>T | 3_prime_UTR_variant, NMD_transcript_variant | 6/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000412 AC: 1AN: 242918Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 130946
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1453656Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 722634
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 01, 2023 | The c.766G>T (p.D256Y) alteration is located in exon 6 (coding exon 5) of the ACSM6 gene. This alteration results from a G to T substitution at nucleotide position 766, causing the aspartic acid (D) at amino acid position 256 to be replaced by a tyrosine (Y). 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