NC_012920.1:m.4688T>C AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 12, 2015
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:: RCV000224763.2

Allele description [Variation Report for NC_012920.1:m.4688T>C]

NC_012920.1:m.4688T>C

Gene:

MT-ND2:mitochondrially encoded NADH dehydrogenase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1:m.4688T>C

HGVS:

NC_012920.1:m.4688T>C

Links:

dbSNP: rs878853056

NCBI 1000 Genomes Browser:

rs878853056

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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acetate permease [Burkholderia cenocepacia J2315]
acetate permease [Burkholderia cenocepacia J2315]
gi|206559119|ref|YP_002229879.1|

Protein
formate--tetrahydrofolate ligase [Photobacterium profundum]
formate--tetrahydrofolate ligase [Photobacterium profundum]
gi|499538627|ref|WP_011219410.1|

Protein
Homo sapiens nucleic acid binding protein 1 (NABP1), transcript variant 3, non-c...
Homo sapiens nucleic acid binding protein 1 (NABP1), transcript variant 3, non-coding RNA
gi|1890609146|ref|NR_045622.3|

Nucleotide
1580755[uid] (1)
Taxonomy
Rattus norvegicus RAB27A, member RAS oncogene family (Rab27a), mRNA
Rattus norvegicus RAB27A, member RAS oncogene family (Rab27a), mRNA
gi|70778972|ref|NM_017317.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000281162	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Aug 12, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000281162

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Benign
(Aug 12, 2015)

germline

clinical testing

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	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281162.1

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

Description

Converted during submission to Likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.005381	not provided	not provided

Last Updated: May 24, 2022

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