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NM_001625.4(AK2):c.698_703delinsGACTCATAAACATAAACATAAACTCA (p.Lys233fs) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 15, 2024
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:
RCV004621440.1

Allele description [Variation Report for NM_001625.4(AK2):c.698_703delinsGACTCATAAACATAAACATAAACTCA (p.Lys233fs)]

NM_001625.4(AK2):c.698_703delinsGACTCATAAACATAAACATAAACTCA (p.Lys233fs)

Gene:
AK2:adenylate kinase 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p35.1
Genomic location:
Preferred name:
NM_001625.4(AK2):c.698_703delinsGACTCATAAACATAAACATAAACTCA (p.Lys233fs)
HGVS:
  • NC_000001.11:g.33013198_33013203delinsTGAGTTTATGTTTATGTTTATGAGTC
  • NG_016269.1:g.28689_28694delinsGACTCATAAACATAAACATAAACTCA
  • NM_001199199.3:c.670+4_670+9delinsGACTCATAAACATAAACATAAACTCA
  • NM_001319139.3:c.550+4_550+9delinsGACTCATAAACATAAACATAAACTCA
  • NM_001319140.2:c.554_559delinsGACTCATAAACATAAACATAAACTCA
  • NM_001319141.3:c.694+4_694+9delinsGACTCATAAACATAAACATAAACTCA
  • NM_001319142.3:c.568+4_568+9delinsGACTCATAAACATAAACATAAACTCA
  • NM_001319143.2:c.*201_*206delinsGACTCATAAACATAAACATAAACTCA
  • NM_001625.4:c.698_703delinsGACTCATAAACATAAACATAAACTCAMANE SELECT
  • NM_013411.5:c.694+4_694+9delinsGACTCATAAACATAAACATAAACTCA
  • NP_001306069.1:p.Lys185fs
  • NP_001616.1:p.Lys233fs
  • LRG_133:g.28689_28694delinsGACTCATAAACATAAACATAAACTCA
  • NC_000001.10:g.33478799_33478804delinsTGAGTTTATGTTTATGTTTATGAGTC
  • NM_001625.3:c.698_703delinsGACTCATAAACATAAACATAAACTCA
Protein change:
K185fs
Molecular consequence:
  • NM_001319143.2:c.*201_*206delinsGACTCATAAACATAAACATAAACTCA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001319140.2:c.554_559delinsGACTCATAAACATAAACATAAACTCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001625.4:c.698_703delinsGACTCATAAACATAAACATAAACTCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001199199.3:c.670+4_670+9delinsGACTCATAAACATAAACATAAACTCA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319139.3:c.550+4_550+9delinsGACTCATAAACATAAACATAAACTCA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319141.3:c.694+4_694+9delinsGACTCATAAACATAAACATAAACTCA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319142.3:c.568+4_568+9delinsGACTCATAAACATAAACATAAACTCA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_013411.5:c.694+4_694+9delinsGACTCATAAACATAAACATAAACTCA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005118236Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 15, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005118236.1

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

Description

The c.698_703delinsGACTCATAAACATAAACATAAACTCA (p.K233Rfs*59) alteration, located in exon 6 (coding exon 6) of the AK2 gene, consists of a deletion of 6 and insertion of 26 nucleotides causing a translational frameshift at position 698 with a predicted alternate stop codon after 59 amino acids. This alteration occurs at the 3' terminus of the AK2 gene, is not expected to trigger nonsense-mediated mRNA decay and results in the elongation of the protein by 51 amino acids. This frameshift impacts the last 7 (2.9%) amino acids of the native protein. The exact functional effect of the altered amino acids is unknown. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024