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NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg) AND Wolff-Parkinson-White pattern

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000656196.1

Allele description [Variation Report for NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)]

NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)
HGVS:
  • NC_000004.12:g.113264937A>G
  • NG_009006.2:g.451855A>G
  • NM_001127493.3:c.1364A>G
  • NM_001148.6:c.1427A>GMANE SELECT
  • NM_001354225.2:c.1427A>G
  • NM_001354228.2:c.1427A>G
  • NM_001354230.2:c.1472A>G
  • NM_001354231.2:c.1472A>G
  • NM_001354232.2:c.1427A>G
  • NM_001354235.2:c.1427A>G
  • NM_001354236.2:c.1427A>G
  • NM_001354237.2:c.1472A>G
  • NM_001354239.2:c.1364A>G
  • NM_001354240.2:c.1472A>G
  • NM_001354241.2:c.1472A>G
  • NM_001354242.2:c.1472A>G
  • NM_001354243.2:c.1364A>G
  • NM_001354244.2:c.1364A>G
  • NM_001354245.2:c.1427A>G
  • NM_001354246.2:c.1427A>G
  • NM_001354249.2:c.1340A>G
  • NM_001354252.2:c.1364A>G
  • NM_001354253.2:c.1364A>G
  • NM_001354254.2:c.1364A>G
  • NM_001354255.2:c.1364A>G
  • NM_001354256.2:c.1364A>G
  • NM_001354257.2:c.1364A>G
  • NM_001354258.2:c.1427A>G
  • NM_001354260.2:c.1340A>G
  • NM_001354261.2:c.1385A>G
  • NM_001354262.2:c.1364A>G
  • NM_001354264.2:c.1340A>G
  • NM_001354265.2:c.1427A>G
  • NM_001354266.2:c.1340A>G
  • NM_001354267.2:c.1340A>G
  • NM_001354268.2:c.1427A>G
  • NM_001354269.3:c.1217A>G
  • NM_001354270.2:c.1364A>G
  • NM_001354271.2:c.1340A>G
  • NM_001354272.2:c.1364A>G
  • NM_001354273.2:c.1229A>G
  • NM_001354274.2:c.1340A>G
  • NM_001354275.2:c.1364A>G
  • NM_001354276.2:c.1340A>G
  • NM_001354277.2:c.1142A>G
  • NM_001386142.1:c.1340A>G
  • NM_001386143.1:c.1364A>G
  • NM_001386144.1:c.1472A>G
  • NM_001386146.1:c.1340A>G
  • NM_001386147.1:c.1385A>G
  • NM_001386148.2:c.1415A>G
  • NM_001386149.1:c.1340A>G
  • NM_001386150.1:c.1340A>G
  • NM_001386151.1:c.1340A>G
  • NM_001386152.1:c.1472A>G
  • NM_001386153.1:c.1340A>G
  • NM_001386154.1:c.1340A>G
  • NM_001386156.1:c.1364A>G
  • NM_001386157.1:c.1142A>G
  • NM_001386158.1:c.1142A>G
  • NM_001386160.1:c.1385A>G
  • NM_001386161.1:c.1364A>G
  • NM_001386162.1:c.1340A>G
  • NM_001386174.1:c.1478A>G
  • NM_001386175.1:c.1454A>G
  • NM_001386186.2:c.1415A>G
  • NM_001386187.2:c.1391A>G
  • NM_020977.5:c.1427A>G
  • NP_001120965.1:p.Gln455Arg
  • NP_001139.3:p.Gln476Arg
  • NP_001341154.1:p.Gln476Arg
  • NP_001341157.1:p.Gln476Arg
  • NP_001341159.1:p.Gln491Arg
  • NP_001341160.1:p.Gln491Arg
  • NP_001341161.1:p.Gln476Arg
  • NP_001341164.1:p.Gln476Arg
  • NP_001341165.1:p.Gln476Arg
  • NP_001341166.1:p.Gln491Arg
  • NP_001341168.1:p.Gln455Arg
  • NP_001341169.1:p.Gln491Arg
  • NP_001341170.1:p.Gln491Arg
  • NP_001341171.1:p.Gln491Arg
  • NP_001341172.1:p.Gln455Arg
  • NP_001341173.1:p.Gln455Arg
  • NP_001341174.1:p.Gln476Arg
  • NP_001341175.1:p.Gln476Arg
  • NP_001341178.1:p.Gln447Arg
  • NP_001341181.1:p.Gln455Arg
  • NP_001341182.1:p.Gln455Arg
  • NP_001341183.1:p.Gln455Arg
  • NP_001341184.1:p.Gln455Arg
  • NP_001341185.1:p.Gln455Arg
  • NP_001341186.1:p.Gln455Arg
  • NP_001341187.1:p.Gln476Arg
  • NP_001341189.1:p.Gln447Arg
  • NP_001341190.1:p.Gln462Arg
  • NP_001341191.1:p.Gln455Arg
  • NP_001341193.1:p.Gln447Arg
  • NP_001341194.1:p.Gln476Arg
  • NP_001341195.1:p.Gln447Arg
  • NP_001341196.1:p.Gln447Arg
  • NP_001341197.1:p.Gln476Arg
  • NP_001341198.1:p.Gln406Arg
  • NP_001341199.1:p.Gln455Arg
  • NP_001341200.1:p.Gln447Arg
  • NP_001341201.1:p.Gln455Arg
  • NP_001341202.1:p.Gln410Arg
  • NP_001341203.1:p.Gln447Arg
  • NP_001341204.1:p.Gln455Arg
  • NP_001341205.1:p.Gln447Arg
  • NP_001341206.1:p.Gln381Arg
  • NP_001373071.1:p.Gln447Arg
  • NP_001373072.1:p.Gln455Arg
  • NP_001373073.1:p.Gln491Arg
  • NP_001373075.1:p.Gln447Arg
  • NP_001373076.1:p.Gln462Arg
  • NP_001373077.1:p.Gln472Arg
  • NP_001373078.1:p.Gln447Arg
  • NP_001373079.1:p.Gln447Arg
  • NP_001373080.1:p.Gln447Arg
  • NP_001373081.1:p.Gln491Arg
  • NP_001373082.1:p.Gln447Arg
  • NP_001373083.1:p.Gln447Arg
  • NP_001373085.1:p.Gln455Arg
  • NP_001373086.1:p.Gln381Arg
  • NP_001373087.1:p.Gln381Arg
  • NP_001373089.1:p.Gln462Arg
  • NP_001373090.1:p.Gln455Arg
  • NP_001373091.1:p.Gln447Arg
  • NP_001373103.1:p.Gln493Arg
  • NP_001373104.1:p.Gln485Arg
  • NP_001373115.1:p.Gln472Arg
  • NP_001373116.1:p.Gln464Arg
  • NP_066187.2:p.Gln476Arg
  • LRG_327t1:c.1427A>G
  • LRG_327:g.451855A>G
  • NC_000004.11:g.114186093A>G
  • NM_001148.4:c.1427A>G
  • NM_020977.3:c.1427A>G
Protein change:
Q381R
Links:
dbSNP: rs1203193073
NCBI 1000 Genomes Browser:
rs1203193073
Molecular consequence:
  • NM_001127493.3:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.2:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.2:c.1385A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.3:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.2:c.1229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.2:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.2:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.2:c.1142A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386143.1:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386144.1:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386146.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386147.1:c.1385A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386148.2:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386149.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386150.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386151.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386152.1:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386153.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386154.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386156.1:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386157.1:c.1142A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386158.1:c.1142A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386160.1:c.1385A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386161.1:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386162.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.1454A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386186.2:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386187.2:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.5:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Wolff-Parkinson-White pattern
Synonyms:
WPW syndrome; Auriculoventricular accessory pathway syndrome; False bundle branch block syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008685; MedGen: C0043202; OMIM: 194200; Human Phenotype Ontology: HP:0001716

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000678390Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
no assertion criteria provided
Uncertain significance
(Jul 14, 2017) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine - Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome, SCV000678390.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided

Description

This variant was identified in an individual with Wolff-Parkinson-White syndrome

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024