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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 2017
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:
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_001127493.3:c.606+3A>G
  • NM_001148.6:c.669+3A>GMANE SELECT
  • NM_001354225.2:c.669+3A>G
  • NM_001354228.2:c.669+3A>G
  • NM_001354230.2:c.714+3A>G
  • NM_001354231.2:c.714+3A>G
  • NM_001354232.2:c.669+3A>G
  • NM_001354235.2:c.669+3A>G
  • NM_001354236.2:c.669+3A>G
  • NM_001354237.2:c.714+3A>G
  • NM_001354239.2:c.606+3A>G
  • NM_001354240.2:c.714+3A>G
  • NM_001354241.2:c.714+3A>G
  • NM_001354242.2:c.714+3A>G
  • NM_001354243.2:c.606+3A>G
  • NM_001354244.2:c.606+3A>G
  • NM_001354245.2:c.669+3A>G
  • NM_001354246.2:c.669+3A>G
  • NM_001354249.2:c.606+3A>G
  • NM_001354252.2:c.606+3A>G
  • NM_001354253.2:c.606+3A>G
  • NM_001354254.2:c.606+3A>G
  • NM_001354255.2:c.606+3A>G
  • NM_001354256.2:c.606+3A>G
  • NM_001354257.2:c.606+3A>G
  • NM_001354258.2:c.669+3A>G
  • NM_001354260.2:c.606+3A>G
  • NM_001354261.2:c.651+3A>G
  • NM_001354262.2:c.606+3A>G
  • NM_001354264.2:c.606+3A>G
  • NM_001354265.2:c.669+3A>G
  • NM_001354266.2:c.606+3A>G
  • NM_001354267.2:c.606+3A>G
  • NM_001354268.2:c.669+3A>G
  • NM_001354269.3:c.657+3A>G
  • NM_001354270.2:c.606+3A>G
  • NM_001354271.2:c.606+3A>G
  • NM_001354272.2:c.606+3A>G
  • NM_001354273.2:c.669+3A>G
  • NM_001354274.2:c.606+3A>G
  • NM_001354275.2:c.606+3A>G
  • NM_001354276.2:c.606+3A>G
  • NM_001354277.2:c.606+3A>G
  • NM_001386142.1:c.606+3A>G
  • NM_001386143.1:c.606+3A>G
  • NM_001386144.1:c.714+3A>G
  • NM_001386146.1:c.606+3A>G
  • NM_001386147.1:c.651+3A>G
  • NM_001386148.2:c.657+3A>G
  • NM_001386149.1:c.606+3A>G
  • NM_001386150.1:c.606+3A>G
  • NM_001386151.1:c.606+3A>G
  • NM_001386152.1:c.714+3A>G
  • NM_001386153.1:c.606+3A>G
  • NM_001386154.1:c.606+3A>G
  • NM_001386156.1:c.606+3A>G
  • NM_001386157.1:c.606+3A>G
  • NM_001386158.1:c.606+3A>G
  • NM_001386160.1:c.651+3A>G
  • NM_001386161.1:c.606+3A>G
  • NM_001386162.1:c.606+3A>G
  • NM_001386174.1:c.720+3A>G
  • NM_001386175.1:c.720+3A>G
  • NM_001386186.2:c.657+3A>G
  • NM_001386187.2:c.657+3A>G
  • NM_020977.5: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_001127493.3:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.2:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.2:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.2:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.2:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.2:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.2:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.2:c.651+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.3:c.657+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.2:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.2:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386142.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386143.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386144.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386146.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386147.1:c.651+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386148.2:c.657+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386149.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386150.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386151.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386152.1:c.714+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386153.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386154.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386156.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386157.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386158.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386160.1:c.651+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386161.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386162.1:c.606+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386174.1:c.720+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386175.1:c.720+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386186.2:c.657+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386187.2:c.657+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.5:c.669+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223199GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 4, 2017) 		germlineclinical testing

Citation Link

Help

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: Sep 29, 2024