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NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys) AND Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 16, 2021
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:
RCV002265781.1

Allele description [Variation Report for NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys)]

NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys)

Gene:
ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys)
HGVS:
  • NC_000017.11:g.18039006C>T
  • NG_012824.1:g.5161G>A
  • NM_145691.4:c.8G>AMANE SELECT
  • NP_663729.1:p.Arg3Lys
  • NC_000017.10:g.17942320C>T
  • NM_145691.3:c.8G>A
Protein change:
R3K
Links:
dbSNP: rs1131691631
NCBI 1000 Genomes Browser:
rs1131691631
Molecular consequence:
  • NM_145691.4:c.8G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Synonyms:
Nuclear-Encoded ATPase Deficiency, ATPAF2-Related; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
Identifiers:
MONDO: MONDO:0011421; MedGen: C3276276; Orphanet: 254913; OMIM: 604273

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548728New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jul 16, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 22, 2022