NM_001148.6(ANK2):c.669+3A>G AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000170647.6

Allele description [Variation Report for NM_001148.6(ANK2):c.669+3A>G]

NM_001148.6(ANK2):c.669+3A>G

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.669+3A>G
HGVS:
  • NC_000004.12:g.113237175A>G
  • NG_009006.2:g.424093A>G
  • NM_001127493.2:c.606+3A>G
  • NM_001148.6:c.669+3A>GMANE SELECT
  • NM_001354225.1:c.669+3A>G
  • NM_001354228.1:c.669+3A>G
  • NM_001354230.1:c.714+3A>G
  • NM_001354231.1:c.714+3A>G
  • NM_001354232.1:c.669+3A>G
  • NM_001354235.1:c.669+3A>G
  • NM_001354236.1:c.669+3A>G
  • NM_001354237.1:c.714+3A>G
  • NM_001354239.1:c.606+3A>G
  • NM_001354240.1:c.714+3A>G
  • NM_001354241.1:c.714+3A>G
  • NM_001354242.1:c.714+3A>G
  • NM_001354243.1:c.606+3A>G
  • NM_001354244.1:c.606+3A>G
  • NM_001354245.1:c.669+3A>G
  • NM_001354246.1:c.669+3A>G
  • NM_001354249.1:c.606+3A>G
  • NM_001354252.1:c.606+3A>G
  • NM_001354253.1:c.606+3A>G
  • NM_001354254.1:c.606+3A>G
  • NM_001354255.1:c.606+3A>G
  • NM_001354256.1:c.606+3A>G
  • NM_001354257.1:c.606+3A>G
  • NM_001354258.1:c.669+3A>G
  • NM_001354260.1:c.606+3A>G
  • NM_001354261.1:c.651+3A>G
  • NM_001354262.1:c.606+3A>G
  • NM_001354264.1:c.606+3A>G
  • NM_001354265.1:c.669+3A>G
  • NM_001354266.1:c.606+3A>G
  • NM_001354267.1:c.606+3A>G
  • NM_001354268.1:c.669+3A>G
  • NM_001354269.1:c.657+3A>G
  • NM_001354270.1:c.606+3A>G
  • NM_001354271.1:c.606+3A>G
  • NM_001354272.1:c.606+3A>G
  • NM_001354273.1:c.669+3A>G
  • NM_001354274.1:c.606+3A>G
  • NM_001354275.1:c.606+3A>G
  • NM_001354276.1:c.606+3A>G
  • NM_001354277.1:c.606+3A>G
  • NM_020977.4:c.669+3A>G
  • LRG_327t1:c.669+3A>G
  • LRG_327:g.424093A>G
  • NC_000004.11:g.114158331A>G
  • NM_001148.4:c.669+3A>G
Links:
dbSNP: rs370475820
NCBI 1000 Genomes Browser:
rs370475820
Molecular consequence:
  • NM_001127493.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.651+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.657+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223199GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 4, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000223199.11

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

Description

A variant of uncertain significance has been identified in the ANK2 gene. The c.669+3 A>G variant has not been published as pathogenic or reported as a benign to our knowledge. This variant was observed in 48/24030 (0.2%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The c.669+3 A>G variant has been seen both independently, and in conjunction with additional cardiogenetic variants, in other individuals referred for arrhythmia genetic testing at GeneDx, although no informative segregation data are available. Moreover, no other splice site variants in the ANK2 gene have been reported in the Human Gene Mutation Database in association with LQTS (Stenson et al., 2014). Nevertheless, the c.669+3 A>G variant is predicted to destroy or significantly reduce the natural splice donor site in intron 6 and may cause abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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

Last Updated: May 23, 2021

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