chr16-30066961-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001243177.4(ALDOA):c.64T>C(p.Phe22Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000966 in 1,552,066 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001243177.4 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 |
---|---|---|---|---|---|---|---|
ALDOA | NM_001243177.4 | c.64T>C | p.Phe22Leu | missense_variant | 2/10 | ENST00000642816.3 | |
LOC112694756 | NM_001365304.2 | c.*489-273T>C | intron_variant | ENST00000338110.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDOA | ENST00000642816.3 | c.64T>C | p.Phe22Leu | missense_variant | 2/10 | NM_001243177.4 | |||
ENST00000338110.11 | c.*489-273T>C | intron_variant | 1 | NM_001365304.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000132 AC: 2AN: 151680Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 81714
GnomAD4 exome AF: 0.00000500 AC: 7AN: 1399890Hom.: 0 Cov.: 31 AF XY: 0.00000434 AC XY: 3AN XY: 690604
GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152176Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74352
ClinVar
Submissions by phenotype
ALDOA-related disorder Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 05, 2023 | The ALDOA c.64T>C variant is predicted to result in the amino acid substitution p.Phe22Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-30078282-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at