rs77290575
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001243177.4(ALDOA):c.1200C>G(p.Ser400Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S400I) has been classified as Uncertain significance.
Frequency
Genomes: not found (cov: 32)
Consequence
ALDOA
NM_001243177.4 missense
NM_001243177.4 missense
Scores
1
7
11
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.19
Publications
0 publications found
Genes affected
ALDOA (HGNC:414): (aldolase, fructose-bisphosphate A) This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]
ALDOA Gene-Disease associations (from GenCC):
- glycogen storage disease due to aldolase A deficiencyInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: G2P, PanelApp Australia, Labcorp Genetics (formerly Invitae), Genomics England PanelApp, Orphanet
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ALDOA | ENST00000642816.3 | c.1200C>G | p.Ser400Arg | missense_variant | Exon 10 of 10 | NM_001243177.4 | ENSP00000496166.1 | |||
| ENSG00000285043 | ENST00000338110.11 | c.*1547C>G | 3_prime_UTR_variant | Exon 14 of 14 | 1 | NM_001365304.2 | ENSP00000336927.6 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
32
GnomAD4 exome Cov.: 33
GnomAD4 exome
Cov.:
33
GnomAD4 genome
GnomAD4 genome
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
BayesDel_addAF
Uncertain
D
BayesDel_noAF
Benign
DANN
Benign
DEOGEN2
Uncertain
.;D;D;D;D;.;D;.;.
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
D
LIST_S2
Benign
T;.;.;.;.;.;T;T;.
M_CAP
Uncertain
D
MetaRNN
Uncertain
T;T;T;T;T;T;T;T;T
MetaSVM
Benign
T
MutationAssessor
Pathogenic
.;M;M;M;M;.;M;.;.
PhyloP100
PrimateAI
Uncertain
T
PROVEAN
Benign
.;N;N;N;N;N;.;.;N
REVEL
Uncertain
Sift
Benign
.;T;T;T;T;T;.;.;T
Sift4G
Benign
T;T;T;T;T;T;.;.;T
Polyphen
0.0050
.;B;B;B;B;.;B;.;.
Vest4
MutPred
0.41
.;Loss of glycosylation at S346 (P = 0.0118);Loss of glycosylation at S346 (P = 0.0118);Loss of glycosylation at S346 (P = 0.0118);Loss of glycosylation at S346 (P = 0.0118);.;Loss of glycosylation at S346 (P = 0.0118);.;.;
MVP
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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