rs76767223
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001243177.4(ALDOA):c.411A>C(p.Thr137=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T137T) has been classified as Likely benign.
Frequency
Consequence
NM_001243177.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALDOA | NM_001243177.4 | c.411A>C | p.Thr137= | synonymous_variant | 4/10 | ENST00000642816.3 | |
LOC112694756 | NM_001365304.2 | c.*758A>C | 3_prime_UTR_variant | 8/14 | ENST00000338110.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALDOA | ENST00000642816.3 | c.411A>C | p.Thr137= | synonymous_variant | 4/10 | NM_001243177.4 | |||
ENST00000338110.11 | c.*758A>C | 3_prime_UTR_variant | 8/14 | 1 | NM_001365304.2 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.