NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000423348.1

Allele description [Variation Report for NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)]

NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)
HGVS:
  • NC_000004.12:g.113357461C>G
  • NG_009006.2:g.544379C>G
  • NM_001127493.2:c.4400-3362C>G
  • NM_001148.6:c.8843C>GMANE SELECT
  • NM_001354225.1:c.4439-3362C>G
  • NM_001354228.1:c.4328-3362C>G
  • NM_001354230.1:c.4406-3362C>G
  • NM_001354231.1:c.4469-3362C>G
  • NM_001354232.1:c.4463-3362C>G
  • NM_001354235.1:c.4424-3362C>G
  • NM_001354236.1:c.4325-3362C>G
  • NM_001354237.1:c.4505-3362C>G
  • NM_001354239.1:c.4397-3362C>G
  • NM_001354240.1:c.4472-3362C>G
  • NM_001354241.1:c.4472-3362C>G
  • NM_001354242.1:c.4469-3362C>G
  • NM_001354243.1:c.4364-3362C>G
  • NM_001354244.1:c.4361-3362C>G
  • NM_001354245.1:c.4265-3362C>G
  • NM_001354246.1:c.4424-3362C>G
  • NM_001354249.1:c.4241-3362C>G
  • NM_001354252.1:c.4397-3362C>G
  • NM_001354253.1:c.4202-3362C>G
  • NM_001354254.1:c.4376-3362C>G
  • NM_001354255.1:c.4364-3362C>G
  • NM_001354256.1:c.4361-3362C>G
  • NM_001354257.1:c.4166-3362C>G
  • NM_001354258.1:c.4328-3362C>G
  • NM_001354260.1:c.4142-3362C>G
  • NM_001354261.1:c.4286-3362C>G
  • NM_001354262.1:c.4265-3362C>G
  • NM_001354264.1:c.4262-3362C>G
  • NM_001354265.1:c.4424-3362C>G
  • NM_001354266.1:c.4241-3362C>G
  • NM_001354267.1:c.4241-3362C>G
  • NM_001354268.1:c.4229-3362C>G
  • NM_001354269.1:c.4214-3362C>G
  • NM_001354270.1:c.4202-3362C>G
  • NM_001354271.1:c.4142-3362C>G
  • NM_001354272.1:c.4298-3362C>G
  • NM_001354273.1:c.4127-3362C>G
  • NM_001354274.1:c.4193-3362C>G
  • NM_001354275.1:c.4265-3362C>G
  • NM_001354276.1:c.4241-3362C>G
  • NM_001354277.1:c.4043-3362C>G
  • NM_001354278.1:c.1955-3362C>G
  • NM_001354279.1:c.1991-3362C>G
  • NM_001354280.1:c.1976-3362C>G
  • NM_001354281.1:c.1955-3362C>G
  • NM_001354282.1:c.1991-3362C>G
  • NM_020977.4:c.4427-3362C>G
  • NP_001139.3:p.Ala2948Gly
  • LRG_327t1:c.8843C>G
  • LRG_327:g.544379C>G
  • NC_000004.11:g.114278617C>G
  • NM_001148.4:c.8843C>G
Protein change:
A2948G
Links:
dbSNP: rs138438183
NCBI 1000 Genomes Browser:
rs138438183
Molecular consequence:
  • NM_001127493.2:c.4400-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4439-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4328-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4406-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4469-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4463-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4424-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4325-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4505-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4397-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4472-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4472-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4469-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4364-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4361-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4265-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4424-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4397-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4202-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4376-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4364-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4361-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4166-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4328-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4142-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4286-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4265-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4262-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4424-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4229-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4214-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4202-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4142-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4298-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4127-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4193-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4265-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4241-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4043-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1955-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1991-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1976-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1955-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1991-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4427-3362C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.8843C>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
SCV000516718GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 11, 2019)
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, SCV000516718.4

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

Description

The A2948G variant of uncertain significance in the ANK2 gene has been reported in two sisters with Brugada syndrome (Allegue et al., 2015). This variant has also been observed both independently and in conjunction with additional cardiogenetic variants, in other unrelated individuals referred for arrhythmia genetic testing at GeneDx; however, segregation data are not available. A2948G is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Finally, the A2948G variant has been observed in 50/126,176 (0.04%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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

Last Updated: Apr 12, 2021

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