rs2853493
Positions:
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP6_Very_StrongBP7BA1
The ENST00000361381.2(MT-ND4):āc.708A>Gā(p.Leu236=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Mitomap GenBank:
š 0.13 ( AC: 7901 )
Consequence
MT-ND4
ENST00000361381.2 synonymous
ENST00000361381.2 synonymous
Scores
Clinical Significance
Altered-brain-pH-/-sCJD-patients
Conservation
PhyloP100: -3.03
Genes affected
MT-ND4 (HGNC:7459): (mitochondrially encoded NADH dehydrogenase 4) Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Part of mitochondrial respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -17 ACMG points.
BP6
Variant M-11467-A-G is Benign according to our data. Variant chrM-11467-A-G is described in ClinVar as [Benign]. Clinvar id is 522716.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
Synonymous conserved (PhyloP=-3.03 with no splicing effect.
BA1
High frequency in mitomap database: 0.1292
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT-ND4 | ENST00000361381.2 | c.708A>G | p.Leu236= | synonymous_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:
7901
Gnomad homoplasmic
AF:
AC:
8766
AN:
56343
Gnomad heteroplasmic
AF:
AC:
3
AN:
56343
Alfa
AF:
Hom.:
Mitomap
Altered-brain-pH-/-sCJD-patients
ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Mendelics | May 04, 2022 | - - |
Mitochondrial disease Benign:1
Benign, criteria provided, single submitter | clinical testing | Genomic Research Center, Shahid Beheshti University of Medical Sciences | Jul 20, 2024 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at