7-6009472-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_006303.4(AIMP2):c.109C>G(p.Pro37Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000493 in 1,589,830 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0026 ( 3 hom., cov: 32)
Exomes 𝑓: 0.00027 ( 1 hom. )
Consequence
AIMP2
NM_006303.4 missense
NM_006303.4 missense
Scores
19
Clinical Significance
Conservation
PhyloP100: 0.117
Genes affected
AIMP2 (HGNC:20609): (aminoacyl tRNA synthetase complex interacting multifunctional protein 2) The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.0044415295).
BP6
?
Variant 7-6009472-C-G is Benign according to our data. Variant chr7-6009472-C-G is described in ClinVar as [Benign]. Clinvar id is 1601061.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00259 (395/152230) while in subpopulation AFR AF= 0.00893 (371/41566). AF 95% confidence interval is 0.00818. There are 3 homozygotes in gnomad4. There are 166 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 3 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AIMP2 | NM_006303.4 | c.109C>G | p.Pro37Ala | missense_variant | 1/4 | ENST00000223029.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AIMP2 | ENST00000223029.8 | c.109C>G | p.Pro37Ala | missense_variant | 1/4 | 1 | NM_006303.4 | P1 | |
AIMP2 | ENST00000395236.2 | c.109C>G | p.Pro37Ala | missense_variant | 1/3 | 2 | |||
AIMP2 | ENST00000400479.6 | c.-251+94C>G | intron_variant | 5 | |||||
AIMP2 | ENST00000415999.1 | c.109C>G | p.Pro37Ala | missense_variant, NMD_transcript_variant | 1/3 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00260 AC: 395AN: 152112Hom.: 3 Cov.: 32
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GnomAD3 exomes AF: 0.000733 AC: 167AN: 227908Hom.: 2 AF XY: 0.000470 AC XY: 59AN XY: 125594
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GnomAD4 exome AF: 0.000270 AC: 388AN: 1437600Hom.: 1 Cov.: 32 AF XY: 0.000210 AC XY: 150AN XY: 714644
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GnomAD4 genome ? AF: 0.00259 AC: 395AN: 152230Hom.: 3 Cov.: 32 AF XY: 0.00223 AC XY: 166AN XY: 74436
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Asia WGS
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3478
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 27, 2023 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
DEOGEN2
Benign
T;.
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T;T
M_CAP
Benign
T
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationAssessor
Benign
L;L
MutationTaster
Benign
N;N;N
PrimateAI
Benign
T
PROVEAN
Benign
N;N
REVEL
Benign
Sift
Benign
T;T
Sift4G
Benign
T;T
Polyphen
B;.
Vest4
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