NM_006714.5:c.700G>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006714.5(SMPDL3A):c.700G>C(p.Glu234Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000372 in 1,613,938 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006714.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMPDL3A | ENST00000368440.5 | c.700G>C | p.Glu234Gln | missense_variant | Exon 5 of 8 | 1 | NM_006714.5 | ENSP00000357425.4 | ||
SMPDL3A | ENST00000539041.5 | c.307G>C | p.Glu103Gln | missense_variant | Exon 4 of 7 | 2 | ENSP00000442152.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251134Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135808
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1461786Hom.: 0 Cov.: 31 AF XY: 0.0000440 AC XY: 32AN XY: 727194
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152152Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.700G>C (p.E234Q) alteration is located in exon 5 (coding exon 5) of the SMPDL3A gene. This alteration results from a G to C substitution at nucleotide position 700, causing the glutamic acid (E) at amino acid position 234 to be replaced by a glutamine (Q). 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