rs149879547

Variant summary

Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4

The NM_013337.4(TIMM22):​c.97G>A​(p.Val33Met) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 32)

Consequence

TIMM22
NM_013337.4 missense

Scores

7
11

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 4.42
Variant links:
Genes affected
TIMM22 (HGNC:17317): (translocase of inner mitochondrial membrane 22) Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 1 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.31691712).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
TIMM22NM_013337.4 linkc.97G>A p.Val33Met missense_variant Exon 1 of 4 ENST00000327158.5 NP_037469.2 Q9Y584

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
TIMM22ENST00000327158.5 linkc.97G>A p.Val33Met missense_variant Exon 1 of 4 1 NM_013337.4 ENSP00000320236.2 Q9Y584

Frequencies

GnomAD3 genomes
Cov.:
32
GnomAD4 exome
Cov.:
32
GnomAD4 genome
Cov.:
32
Bravo
AF:
0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
0.47
BayesDel_addAF
Benign
-0.033
T
BayesDel_noAF
Benign
-0.28
CADD
Uncertain
25
DANN
Uncertain
1.0
DEOGEN2
Benign
0.066
T
Eigen
Uncertain
0.52
Eigen_PC
Uncertain
0.56
FATHMM_MKL
Benign
0.76
D
M_CAP
Benign
0.067
D
MetaRNN
Benign
0.32
T
MetaSVM
Benign
-0.77
T
MutationAssessor
Benign
2.0
M
PrimateAI
Uncertain
0.73
T
PROVEAN
Benign
-1.2
N
REVEL
Benign
0.090
Sift
Uncertain
0.0060
D
Sift4G
Uncertain
0.038
D
Polyphen
0.91
P
Vest4
0.45
MutPred
0.29
Gain of disorder (P = 0.0711);
MVP
0.43
MPC
0.46
ClinPred
0.97
D
GERP RS
5.4
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.6
Varity_R
0.68
gMVP
0.73

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs149879547; hg19: chr17-900479; API