rs948075942
Variant summary
Our verdict is Likely benign. The variant received -1 ACMG points: 0P and 1B. BP4
The NM_001017921.4(VMAC):c.74A>C(p.Glu25Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000209 in 1,475,776 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 (★).
Frequency
Consequence
NM_001017921.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VMAC | ENST00000339485.4 | c.74A>C | p.Glu25Ala | missense_variant | Exon 1 of 2 | 1 | NM_001017921.4 | ENSP00000343348.2 | ||
ENSG00000267314 | ENST00000588891.1 | n.74A>C | non_coding_transcript_exon_variant | Exon 1 of 4 | 4 | ENSP00000468419.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152158Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000405 AC: 3AN: 73992 AF XY: 0.0000696 show subpopulations
GnomAD4 exome AF: 0.000225 AC: 298AN: 1323618Hom.: 0 Cov.: 31 AF XY: 0.000222 AC XY: 145AN XY: 652874 show subpopulations
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152158Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74334 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.74A>C (p.E25A) alteration is located in exon 1 (coding exon 1) of the VMAC gene. This alteration results from a A to C substitution at nucleotide position 74, causing the glutamic acid (E) at amino acid position 25 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