3-132561184-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032169.5(ACAD11):āc.2035A>Gā(p.Ile679Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,268 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032169.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACAD11 | NM_032169.5 | c.2035A>G | p.Ile679Val | missense_variant | 18/20 | ENST00000264990.11 | |
NPHP3-ACAD11 | NR_037804.1 | n.6647A>G | non_coding_transcript_exon_variant | 43/45 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAD11 | ENST00000264990.11 | c.2035A>G | p.Ile679Val | missense_variant | 18/20 | 1 | NM_032169.5 | P1 | |
ACAD11 | ENST00000485198.5 | c.*516A>G | 3_prime_UTR_variant, NMD_transcript_variant | 16/18 | 1 | ||||
ACAD11 | ENST00000469042.5 | n.2821A>G | non_coding_transcript_exon_variant | 16/18 | 2 | ||||
ACAD11 | ENST00000496418.5 | n.2543A>G | non_coding_transcript_exon_variant | 17/19 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152010Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461258Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726924
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152010Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74230
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 20, 2023 | The c.2035A>G (p.I679V) alteration is located in exon 18 (coding exon 18) of the ACAD11 gene. This alteration results from a A to G substitution at nucleotide position 2035, causing the isoleucine (I) at amino acid position 679 to be replaced by a valine (V). 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