NC_012920.1(MT-ND1):m.4167C>T AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 17, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000992367.2

Allele description [Variation Report for NC_012920.1(MT-ND1):m.4167C>T]

NC_012920.1(MT-ND1):m.4167C>T

Gene:

MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ND1):m.4167C>T

HGVS:

NC_012920.1:m.4167C>T

Links:

dbSNP: rs1603219333

NCBI 1000 Genomes Browser:

rs1603219333

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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RecName: Full=Pseudouridylate synthase RPUSD4, mitochondrial; AltName: Full=RNA ...
RecName: Full=Pseudouridylate synthase RPUSD4, mitochondrial; AltName: Full=RNA pseudouridylate synthase domain-containing protein 4; Flags: Precursor
gi|74731354|sp|Q96CM3.1|RUSD4_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001144592	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely benign (Sep 17, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 12436196, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001144592

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely benign
(Sep 17, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy.

Sudoyo H, Suryadi H, Lertrit P, Pramoonjago P, Lyrawati D, Marzuki S.

J Hum Genet. 2002;47(11):594-604.

PubMed [citation]

PMID:: 12436196

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Athena Diagnostics, SCV001144592.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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