NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 17, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000487226.2

Allele description [Variation Report for NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)]

NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)
HGVS:
  • NC_000004.12:g.113357510C>G
  • NG_009006.2:g.544428C>G
  • NM_001127493.2:c.4400-3313C>G
  • NM_001148.6:c.8892C>GMANE SELECT
  • NM_001354225.1:c.4439-3313C>G
  • NM_001354228.1:c.4328-3313C>G
  • NM_001354230.1:c.4406-3313C>G
  • NM_001354231.1:c.4469-3313C>G
  • NM_001354232.1:c.4463-3313C>G
  • NM_001354235.1:c.4424-3313C>G
  • NM_001354236.1:c.4325-3313C>G
  • NM_001354237.1:c.4505-3313C>G
  • NM_001354239.1:c.4397-3313C>G
  • NM_001354240.1:c.4472-3313C>G
  • NM_001354241.1:c.4472-3313C>G
  • NM_001354242.1:c.4469-3313C>G
  • NM_001354243.1:c.4364-3313C>G
  • NM_001354244.1:c.4361-3313C>G
  • NM_001354245.1:c.4265-3313C>G
  • NM_001354246.1:c.4424-3313C>G
  • NM_001354249.1:c.4241-3313C>G
  • NM_001354252.1:c.4397-3313C>G
  • NM_001354253.1:c.4202-3313C>G
  • NM_001354254.1:c.4376-3313C>G
  • NM_001354255.1:c.4364-3313C>G
  • NM_001354256.1:c.4361-3313C>G
  • NM_001354257.1:c.4166-3313C>G
  • NM_001354258.1:c.4328-3313C>G
  • NM_001354260.1:c.4142-3313C>G
  • NM_001354261.1:c.4286-3313C>G
  • NM_001354262.1:c.4265-3313C>G
  • NM_001354264.1:c.4262-3313C>G
  • NM_001354265.1:c.4424-3313C>G
  • NM_001354266.1:c.4241-3313C>G
  • NM_001354267.1:c.4241-3313C>G
  • NM_001354268.1:c.4229-3313C>G
  • NM_001354269.1:c.4214-3313C>G
  • NM_001354270.1:c.4202-3313C>G
  • NM_001354271.1:c.4142-3313C>G
  • NM_001354272.1:c.4298-3313C>G
  • NM_001354273.1:c.4127-3313C>G
  • NM_001354274.1:c.4193-3313C>G
  • NM_001354275.1:c.4265-3313C>G
  • NM_001354276.1:c.4241-3313C>G
  • NM_001354277.1:c.4043-3313C>G
  • NM_001354278.1:c.1955-3313C>G
  • NM_001354279.1:c.1991-3313C>G
  • NM_001354280.1:c.1976-3313C>G
  • NM_001354281.1:c.1955-3313C>G
  • NM_001354282.1:c.1991-3313C>G
  • NM_020977.4:c.4427-3313C>G
  • NP_001139.3:p.Ile2964Met
  • LRG_327t1:c.8892C>G
  • LRG_327:g.544428C>G
  • NC_000004.11:g.114278666C>G
  • NM_001148.4:c.8892C>G
Protein change:
I2964M
Links:
dbSNP: rs62313245
NCBI 1000 Genomes Browser:
rs62313245
Molecular consequence:
  • NM_001127493.2:c.4400-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4439-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4328-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4406-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4469-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4463-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4424-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4325-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4505-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4397-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4472-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4472-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4469-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4364-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4361-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4265-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4424-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4241-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4397-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4202-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4376-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4364-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4361-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4166-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4328-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4142-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4286-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4265-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4262-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4424-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4241-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4241-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4229-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4214-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4202-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4142-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4298-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4127-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4193-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4265-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4241-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4043-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1955-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1991-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1976-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1955-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1991-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4427-3313C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.8892C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568993GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 17, 2018)
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, SCV000568993.4

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

Description

The I2964M variant of uncertain significance in the ANK2 gene has not been published as pathogenic or been reported as benign to our knowledge. It has been observed both independently, and in conjunction with another cardiogenetic variant, in other individuals referred for arrhythmia genetic testing at GeneDx, although no segregation data are available. The I2964M is observed in 39/276744 (0.01%) alleles from individuals of multiple ethnic backgrounds in large population cohorts (Lek et al., 2016). The I2964M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Apr 12, 2021

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