NC_012920.1(MT-ND1):m.3505A>G AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Feb 13, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000992358.3

Allele description [Variation Report for NC_012920.1(MT-ND1):m.3505A>G]

NC_012920.1(MT-ND1):m.3505A>G

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.3505A>G

HGVS:

NC_012920.1:m.3505A>G

Links:

dbSNP: rs28358585

NCBI 1000 Genomes Browser:

rs28358585

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001144581	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Feb 13, 2019)	germline	clinical testing	PubMed (17) [See all records that cite these PMIDs] 16807713, 16738010, 17517629, 21296687, 21129724, 20978534, 22780954, 26262956, 24153443, 24146900, 24986921, 26428318, 27343181, 28187756, 29330893, 28708239, 26467025
SCV005277476	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001144581

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Feb 13, 2019)

germline

clinical testing

PubMed (17)
[See all records that cite these PMIDs]

SCV005277476

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

PubMed (1)
[See all records that cite this PMID]

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	not provided

Citations

PubMed

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.

Annunen-Rasila J, Finnilä S, Mykkänen K, Moilanen JS, Veijola J, Pöyhönen M, Viitanen M, Kalimo H, Majamaa K.

Neurogenetics. 2006 Jul;7(3):185-94. Epub 2006 Jun 29. Erratum in: Neurogenetics. 2006 Nov;7(4):281.

PubMed [citation]

PMID:: 16807713

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Hinttala R, Smeets R, Moilanen JS, Ugalde C, Uusimaa J, Smeitink JA, Majamaa K.

J Med Genet. 2006 Nov;43(11):881-6. Epub 2006 May 31.

PubMed [citation]

PMID:: 16738010
PMCID:: PMC2563189

See all PubMed Citations (18)

Details of each submission

From Athena Diagnostics, SCV001144581.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (17)

#	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

From Breakthrough Genomics, Breakthrough Genomics, SCV005277476.1

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

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

Last Updated: Sep 29, 2024

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