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NC_012920.1(MT-ND1):m.3849G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2019)
Last evaluated:
Oct 12, 2018
Accession:
VCV000235619.3
Variation ID:
235619
Description:
single nucleotide variant
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NC_012920.1(MT-ND1):m.3849G>A

Allele ID
237300
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 3849 (GRCh38) GRCh38 UCSC
MT: 3849 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.3849G>A YP_003024026.1:p.Leu181= synonymous
NC_012920.1:m.3849G>A synonymous
NC_012920.1:m.3849G>A YP_003024026.1:p.Leu181= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_012920.1:3848:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10581376
dbSNP: rs878853081
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 12, 2018 RCV000224955.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MT-ND1 - - GRCh38 174 174

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely Benign
(Sep 29, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281337.1
Submitted: (May 19, 2016)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Oct 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144587.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (6)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Deep sequencing reveals the mitochondrial DNA variation landscapes of breast-to-brain metastasis blood samples. McGeehan RE Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 2018 PMID: 28712340
Deciphering the signature of selective constraints on cancerous mitochondrial genome. Liu J Molecular biology and evolution 2012 PMID: 22130971
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes. Gómez-Carballa A PloS one 2011 PMID: 21526175
De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology. Zhadanov SI Journal of human genetics 2006 PMID: 16418878
Sequence analysis of the entire mitochondrial genome in Parkinson's disease. Vives-Bauza C Biochemical and biophysical research communications 2002 PMID: 11820805
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Torroni A American journal of human genetics 1999 PMID: 10521300

Text-mined citations for rs878853081...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021