rs878852987
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The ENST00000361899.2(MT-ATP6):c.14T>C(p.Leu5Pro) variant causes a missense change involving the alteration of a conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Mitomap GenBank:
𝑓 0.00010 ( AC: 7 )
Consequence
MT-ATP6
ENST00000361899.2 missense
ENST00000361899.2 missense
Scores
Apogee2
Uncertain
Clinical Significance
No linked disesase in Mitomap
Conservation
PhyloP100: 7.70
Genes affected
MT-ATP6 (HGNC:7414): (mitochondrially encoded ATP synthase 6) Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in mitochondrial ATP synthesis coupled proton transport. Part of mitochondrial proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Apr 2022]
MT-ATP8 (HGNC:7415): (mitochondrially encoded ATP synthase 8) Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in mitochondrial ATP synthesis coupled proton transport. Part of mitochondrial proton-transporting ATP synthase complex. Implicated in multiple sclerosis and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
BP4
?
Apogee2 supports a benign effect, 0.4194986 < 0.5 .
BS2
?
High AC in GnomadMitoHomoplasmic at 7
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATP6 | ATP6.1 use as main transcript | c.14T>C | p.Leu5Pro | missense_variant | 1/1 | ||
ATP8 | ATP8.1 use as main transcript | c.175T>C | p.Cys59Arg | missense_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT-ATP6 | ENST00000361899.2 | c.14T>C | p.Leu5Pro | missense_variant | 1/1 | P1 | |||
MT-ATP8 | ENST00000361851.1 | c.175T>C | p.Cys59Arg | missense_variant | 1/1 | P1 |
Frequencies
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
Mitomap GenBank
AF:
AC:
7
Gnomad homoplasmic
AF:
AC:
7
AN:
56430
Gnomad heteroplasmic
AF:
AC:
0
AN:
56430
Mitomap
No disease associated.
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
Leigh syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine | Oct 17, 2019 | The NC_012920.1:m.8540T>C (YP_003024031.1:p.Leu5Pro) variant in MTATP6 gene ( also (YP_003024030.1:p.Cys59Arg) variant in MTATP8 gene ) is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP3 - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Jan 11, 2016 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Apogee2
Uncertain
Hmtvar
Benign
AlphaMissense
Uncertain
BayesDel_addAF
Benign
T
DEOGEN2
Benign
T
LIST_S2
Benign
T
MutationTaster
Benign
D;D
PROVEAN
Benign
N
Sift
Benign
T
Sift4G
Pathogenic
D
GERP RS
Varity_R
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at