NM_001148.6(ANK2):c.11032+17G>A AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Nov 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000123645.4

Allele description [Variation Report for NM_001148.6(ANK2):c.11032+17G>A]

NM_001148.6(ANK2):c.11032+17G>A

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.11032+17G>A
HGVS:
  • NC_000004.12:g.113365199G>A
  • NG_009006.2:g.552117G>A
  • NM_001127493.2:c.4750+17G>A
  • NM_001148.6:c.11032+17G>AMANE SELECT
  • NM_001354225.1:c.4789+17G>A
  • NM_001354228.1:c.4678+17G>A
  • NM_001354230.1:c.4756+17G>A
  • NM_001354231.1:c.4819+17G>A
  • NM_001354232.1:c.4813+17G>A
  • NM_001354235.1:c.4774+17G>A
  • NM_001354236.1:c.4675+17G>A
  • NM_001354237.1:c.4855+17G>A
  • NM_001354239.1:c.4747+17G>A
  • NM_001354240.1:c.4822+17G>A
  • NM_001354241.1:c.4822+17G>A
  • NM_001354242.1:c.4819+17G>A
  • NM_001354243.1:c.4714+17G>A
  • NM_001354244.1:c.4711+17G>A
  • NM_001354245.1:c.4615+17G>A
  • NM_001354246.1:c.4774+17G>A
  • NM_001354249.1:c.4591+17G>A
  • NM_001354252.1:c.4747+17G>A
  • NM_001354253.1:c.4552+17G>A
  • NM_001354254.1:c.4726+17G>A
  • NM_001354255.1:c.4714+17G>A
  • NM_001354256.1:c.4711+17G>A
  • NM_001354257.1:c.4516+17G>A
  • NM_001354258.1:c.4678+17G>A
  • NM_001354260.1:c.4492+17G>A
  • NM_001354261.1:c.4636+17G>A
  • NM_001354262.1:c.4615+17G>A
  • NM_001354264.1:c.4612+17G>A
  • NM_001354265.1:c.4774+17G>A
  • NM_001354266.1:c.4591+17G>A
  • NM_001354267.1:c.4591+17G>A
  • NM_001354268.1:c.4579+17G>A
  • NM_001354269.1:c.4564+17G>A
  • NM_001354270.1:c.4552+17G>A
  • NM_001354271.1:c.4492+17G>A
  • NM_001354272.1:c.4648+17G>A
  • NM_001354273.1:c.4477+17G>A
  • NM_001354274.1:c.4543+17G>A
  • NM_001354275.1:c.4615+17G>A
  • NM_001354276.1:c.4591+17G>A
  • NM_001354277.1:c.4393+17G>A
  • NM_001354278.1:c.2305+17G>A
  • NM_001354279.1:c.2341+17G>A
  • NM_001354280.1:c.2326+17G>A
  • NM_001354281.1:c.2305+17G>A
  • NM_001354282.1:c.2341+17G>A
  • NM_020977.4:c.4777+17G>A
  • LRG_327t1:c.11032+17G>A
  • LRG_327:g.552117G>A
  • NC_000004.11:g.114286355G>A
  • NM_001148.4:c.11032+17G>A
Links:
dbSNP: rs587780853
NCBI 1000 Genomes Browser:
rs587780853
Molecular consequence:
  • NM_001127493.2:c.4750+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.11032+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4789+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4678+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4756+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4819+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4813+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4774+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4675+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4855+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4747+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4822+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4822+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4819+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4714+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4711+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4615+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4774+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4591+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4747+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4552+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4726+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4714+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4711+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4516+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4678+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4492+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4636+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4615+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4612+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4774+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4591+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4591+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4579+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4564+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4552+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4492+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4648+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4477+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4543+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4615+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4591+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4393+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.2305+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.2341+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.2326+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.2305+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.2341+17G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4777+17G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000166984GeneDxcriteria provided, single submitter
Benign
(Aug 14, 2013)
germlineclinical testing

Citation Link,

SCV001361179Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Nov 11, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000166984.12

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361179.1

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

Description

Variant summary: ANK2 c.11032+17G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.3e-06 in 233656 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.11032+17G>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrences with other pathogenic variant(s) have been reported (KCNQ1 c.188C>T, p.Q530X), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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

Last Updated: Jun 14, 2021

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