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NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2014
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:
RCV000199001.1

Allele description [Variation Report for NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)]

NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)

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.389C>A (p.Ala130Glu)
Other names:
p.A130E:GCA>GAA
HGVS:
  • NC_000017.11:g.18026352G>T
  • NG_012824.1:g.17815C>A
  • NM_145691.4:c.389C>AMANE SELECT
  • NP_663729.1:p.Ala130Glu
  • NC_000017.10:g.17929666G>T
  • NM_145691.3:c.389C>A
Protein change:
A130E
Links:
dbSNP: rs759676953
NCBI 1000 Genomes Browser:
rs759676953
Molecular consequence:
  • NM_145691.4:c.389C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000251171GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 29, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000251171.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Ala130Glu (GCA>GAA): c.389 C>A in exon 4 of the ATPAF2 gene (NM_145691.3). The A130E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A130E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023