NM_001697.3(ATP5PO):c.87+3A>G AND ATP5PO-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 29, 2020
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:: RCV001257515.2

Allele description [Variation Report for NM_001697.3(ATP5PO):c.87+3A>G]

NM_001697.3(ATP5PO):c.87+3A>G

Genes:

ATP5PO:ATP synthase peripheral stalk subunit OSCP [Gene - OMIM - HGNC]
LOC126653351:MED14-independent group 3 enhancer GRCh37_chr21:35285966-35287165 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_001697.3(ATP5PO):c.87+3A>G

HGVS:

NC_000021.9:g.33914447T>C
NG_081844.1:g.886T>C
NM_001697.3:c.87+3A>GMANE SELECT
NC_000021.8:g.35286751T>C
NM_001697.2:c.87+3A>G

Nucleotide change:

IVS2DS, A-G, +3

Links:

OMIM: 600828.0003; dbSNP: rs1987287870

NCBI 1000 Genomes Browser:

rs1987287870

Molecular consequence:

NM_001697.3:c.87+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: ATP5PO-related disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001430892	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (UDN)	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 29, 2020)	inherited	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

SCV001430892

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (UDN)

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 29, 2020)

inherited

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
Turkish	inherited	yes	1	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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (UDN), SCV001430892.1

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

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

Last Updated: Nov 24, 2024

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