chr3-132559003-C-T
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Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032169.5(ACAD11):c.2311G>A(p.Asp771Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000868 in 1,613,516 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
Genomes: 𝑓 0.000013 ( 0 hom., cov: 33)
Exomes 𝑓: 0.0000082 ( 0 hom. )
Consequence
ACAD11
NM_032169.5 missense
NM_032169.5 missense
Scores
5
13
Clinical Significance
Conservation
PhyloP100: 4.17
Genes affected
ACAD11 (HGNC:30211): (acyl-CoA dehydrogenase family member 11) This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.21950564).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACAD11 | NM_032169.5 | c.2311G>A | p.Asp771Asn | missense_variant | 20/20 | ENST00000264990.11 | |
NPHP3-ACAD11 | NR_037804.1 | n.6923G>A | non_coding_transcript_exon_variant | 45/45 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAD11 | ENST00000264990.11 | c.2311G>A | p.Asp771Asn | missense_variant | 20/20 | 1 | NM_032169.5 | P1 | |
ACAD11 | ENST00000485198.5 | c.*792G>A | 3_prime_UTR_variant, NMD_transcript_variant | 18/18 | 1 | ||||
ACAD11 | ENST00000469042.5 | n.3097G>A | non_coding_transcript_exon_variant | 18/18 | 2 | ||||
ACAD11 | ENST00000496418.5 | n.2819G>A | non_coding_transcript_exon_variant | 19/19 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152120Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250920Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135612
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GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461396Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 727016
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GnomAD4 genome AF: 0.0000131 AC: 2AN: 152120Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74304
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 27, 2022 | The c.2311G>A (p.D771N) alteration is located in exon 20 (coding exon 20) of the ACAD11 gene. This alteration results from a G to A substitution at nucleotide position 2311, causing the aspartic acid (D) at amino acid position 771 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
DEOGEN2
Benign
T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T
M_CAP
Uncertain
D
MetaRNN
Benign
T
MetaSVM
Uncertain
D
MutationAssessor
Benign
L
MutationTaster
Benign
D;D;N
PROVEAN
Benign
N
REVEL
Uncertain
Sift
Benign
T
Sift4G
Benign
T
Polyphen
P
Vest4
MutPred
Gain of MoRF binding (P = 0.0441);
MVP
MPC
ClinPred
T
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at