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NM_016203.4(PRKAG2):c.864+35_864+36insA AND Wolff-Parkinson-White pattern

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 25, 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:
RCV001789306.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.864+35_864+36insA]

NM_016203.4(PRKAG2):c.864+35_864+36insA

Gene:
PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_016203.4(PRKAG2):c.864+35_864+36insA
HGVS:
  • NC_000007.14:g.151595309_151595310insT
  • NG_007486.2:g.286922_286923insA
  • NM_001040633.2:c.732+35_732+36insA
  • NM_001304527.2:c.489+35_489+36insA
  • NM_001304531.2:c.141+35_141+36insA
  • NM_001363698.2:c.492+35_492+36insA
  • NM_016203.4:c.864+35_864+36insAMANE SELECT
  • NM_024429.2:c.141+35_141+36insA
  • LRG_430t1:c.864+35_864+36insA
  • LRG_430:g.286922_286923insA
  • NC_000007.13:g.151292395_151292396insT
  • NG_007486.1:g.286921_286922insA
  • NM_016203.3:c.864+35_864+36insA
Links:
dbSNP: rs35348247
NCBI 1000 Genomes Browser:
rs35348247
Molecular consequence:
  • NM_001040633.2:c.732+35_732+36insA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304527.2:c.489+35_489+36insA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304531.2:c.141+35_141+36insA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363698.2:c.492+35_492+36insA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016203.4:c.864+35_864+36insA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024429.2:c.141+35_141+36insA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Wolff-Parkinson-White pattern
Synonyms:
WPW syndrome; Auriculoventricular accessory pathway syndrome; False bundle branch block syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008685; MedGen: C0043202; OMIM: 194200; Human Phenotype Ontology: HP:0001716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031840Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Oct 25, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV002031840.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024