chr3-132618708-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032169.5(ACAD11):c.1340T>G(p.Val447Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000181 in 1,605,280 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V447M) has been classified as Uncertain significance.
Frequency
Consequence
NM_032169.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACAD11 | NM_032169.5 | c.1340T>G | p.Val447Gly | missense_variant | 11/20 | ENST00000264990.11 | |
NPHP3-ACAD11 | NR_037804.1 | n.5342T>G | non_coding_transcript_exon_variant | 37/45 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAD11 | ENST00000264990.11 | c.1340T>G | p.Val447Gly | missense_variant | 11/20 | 1 | NM_032169.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000247 AC: 6AN: 242534Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131520
GnomAD4 exome AF: 0.0000179 AC: 26AN: 1452946Hom.: 0 Cov.: 30 AF XY: 0.0000152 AC XY: 11AN XY: 722806
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 18, 2023 | The c.1340T>G (p.V447G) alteration is located in exon 11 (coding exon 11) of the ACAD11 gene. This alteration results from a T to G substitution at nucleotide position 1340, causing the valine (V) at amino acid position 447 to be replaced by a glycine (G). 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