rs41553913
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005035.4(POLRMT):āc.1198T>Cā(p.Phe400Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0161 in 1,613,624 control chromosomes in the GnomAD database, including 925 homozygotes. 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: š 0.046 ( 433 hom., cov: 33)
Exomes š: 0.013 ( 492 hom. )
Consequence
POLRMT
NM_005035.4 missense
NM_005035.4 missense
Scores
1
3
11
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 4.43
Genes affected
POLRMT (HGNC:9200): (RNA polymerase mitochondrial) This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.0020318627).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.136 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLRMT | NM_005035.4 | c.1198T>C | p.Phe400Leu | missense_variant | 6/21 | ENST00000588649.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLRMT | ENST00000588649.7 | c.1198T>C | p.Phe400Leu | missense_variant | 6/21 | 1 | NM_005035.4 | P1 | |
POLRMT | ENST00000590573.4 | c.964T>C | p.Phe322Leu | missense_variant | 4/4 | 3 | |||
POLRMT | ENST00000590709.3 | n.631T>C | non_coding_transcript_exon_variant | 3/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0463 AC: 7039AN: 152142Hom.: 431 Cov.: 33
GnomAD3 genomes
?
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GnomAD3 exomes AF: 0.0183 AC: 4586AN: 250640Hom.: 201 AF XY: 0.0156 AC XY: 2117AN XY: 135780
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GnomAD4 exome AF: 0.0130 AC: 18980AN: 1461364Hom.: 492 Cov.: 34 AF XY: 0.0124 AC XY: 8995AN XY: 727026
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GnomAD4 genome ? AF: 0.0463 AC: 7053AN: 152260Hom.: 433 Cov.: 33 AF XY: 0.0442 AC XY: 3288AN XY: 74450
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ESP6500AA
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604
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2496
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
DEOGEN2
Benign
T;.
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T;T
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationAssessor
Uncertain
M;.
MutationTaster
Benign
P;P
PrimateAI
Uncertain
T
Sift4G
Benign
T;.
Polyphen
B;.
Vest4
MutPred
Gain of disorder (P = 0.0618);.;
MPC
ClinPred
T
GERP RS
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