NM_033138.4:c.359A>C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_033138.4(CALD1):āc.359A>Cā(p.Glu120Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,613,904 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_033138.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152032Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250928Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135702
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461872Hom.: 0 Cov.: 32 AF XY: 0.0000275 AC XY: 20AN XY: 727234
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152032Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74250
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.359A>C (p.E120A) alteration is located in exon 5 (coding exon 3) of the CALD1 gene. This alteration results from a A to C substitution at nucleotide position 359, causing the glutamic acid (E) at amino acid position 120 to be replaced by an alanine (A). 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