U.S. flag

An official website of the United States government

NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) AND not specified

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Jan 21, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000613422.6

Allele description [Variation Report for NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)]

NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
HGVS:
  • NC_000004.12:g.113353363G>A
  • NG_009006.2:g.540281G>A
  • NM_001127493.3:c.4399+3114G>A
  • NM_001148.6:c.4745G>AMANE SELECT
  • NM_001354225.2:c.4438+3114G>A
  • NM_001354228.2:c.4327+3114G>A
  • NM_001354230.2:c.4405+3114G>A
  • NM_001354231.2:c.4468+3114G>A
  • NM_001354232.2:c.4462+3114G>A
  • NM_001354235.2:c.4423+3114G>A
  • NM_001354236.2:c.4324+3114G>A
  • NM_001354237.2:c.4504+3114G>A
  • NM_001354239.2:c.4396+3114G>A
  • NM_001354240.2:c.4471+3114G>A
  • NM_001354241.2:c.4471+3114G>A
  • NM_001354242.2:c.4468+3114G>A
  • NM_001354243.2:c.4363+3114G>A
  • NM_001354244.2:c.4360+3114G>A
  • NM_001354245.2:c.4264+3114G>A
  • NM_001354246.2:c.4423+3114G>A
  • NM_001354249.2:c.4240+3114G>A
  • NM_001354252.2:c.4396+3114G>A
  • NM_001354253.2:c.4201+3114G>A
  • NM_001354254.2:c.4375+3114G>A
  • NM_001354255.2:c.4363+3114G>A
  • NM_001354256.2:c.4360+3114G>A
  • NM_001354257.2:c.4165+3114G>A
  • NM_001354258.2:c.4327+3114G>A
  • NM_001354260.2:c.4141+3114G>A
  • NM_001354261.2:c.4285+3114G>A
  • NM_001354262.2:c.4264+3114G>A
  • NM_001354264.2:c.4261+3114G>A
  • NM_001354265.2:c.4423+3114G>A
  • NM_001354266.2:c.4240+3114G>A
  • NM_001354267.2:c.4240+3114G>A
  • NM_001354268.2:c.4228+3114G>A
  • NM_001354269.3:c.4213+3114G>A
  • NM_001354270.2:c.4201+3114G>A
  • NM_001354271.2:c.4141+3114G>A
  • NM_001354272.2:c.4297+3114G>A
  • NM_001354273.2:c.4126+3114G>A
  • NM_001354274.2:c.4192+3114G>A
  • NM_001354275.2:c.4264+3114G>A
  • NM_001354276.2:c.4240+3114G>A
  • NM_001354277.2:c.4042+3114G>A
  • NM_001354278.2:c.1954+3114G>A
  • NM_001354279.2:c.1990+3114G>A
  • NM_001354280.2:c.1975+3114G>A
  • NM_001354281.2:c.1954+3114G>A
  • NM_001354282.2:c.1990+3114G>A
  • NM_001386142.1:c.4511G>A
  • NM_001386143.1:c.4363+3114G>A
  • NM_001386144.1:c.4471+3114G>A
  • NM_001386146.1:c.4207+3114G>A
  • NM_001386147.1:c.4252+3114G>A
  • NM_001386148.2:c.4411+3114G>A
  • NM_001386149.1:c.4207+3114G>A
  • NM_001386150.1:c.4207+3114G>A
  • NM_001386151.1:c.4141+3114G>A
  • NM_001386152.1:c.4483+3114G>A
  • NM_001386153.1:c.4207+3114G>A
  • NM_001386154.1:c.4192+3114G>A
  • NM_001386156.1:c.4165+3114G>A
  • NM_001386157.1:c.4042+3114G>A
  • NM_001386158.1:c.3943+3114G>A
  • NM_001386160.1:c.4270+3114G>A
  • NM_001386161.1:c.4360+3114G>A
  • NM_001386162.1:c.4240+3114G>A
  • NM_001386166.1:c.1145G>A
  • NM_001386167.1:c.826+3114G>A
  • NM_001386174.1:c.4886G>A
  • NM_001386175.1:c.4862G>A
  • NM_001386186.2:c.4411+3114G>A
  • NM_001386187.2:c.4291+3114G>A
  • NM_020977.5:c.4426+3114G>A
  • NP_001139.3:p.Arg1582Gln
  • NP_001373071.1:p.Arg1504Gln
  • NP_001373095.1:p.Arg382Gln
  • NP_001373103.1:p.Arg1629Gln
  • NP_001373104.1:p.Arg1621Gln
  • LRG_327t1:c.4745G>A
  • LRG_327:g.540281G>A
  • NC_000004.11:g.114274519G>A
  • NM_001148.4:c.4745G>A
  • NM_001148.5:c.4745G>A
Protein change:
R1504Q
Links:
dbSNP: rs138842207
NCBI 1000 Genomes Browser:
rs138842207
Molecular consequence:
  • NM_001127493.3:c.4399+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.2:c.4438+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.2:c.4327+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.2:c.4405+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.2:c.4468+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.2:c.4462+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.2:c.4423+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.2:c.4324+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.2:c.4504+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.2:c.4396+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.2:c.4471+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.2:c.4471+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.2:c.4468+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.2:c.4363+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.2:c.4360+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.2:c.4264+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.2:c.4423+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.2:c.4396+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.2:c.4201+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.2:c.4375+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.2:c.4363+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.2:c.4360+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.2:c.4165+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.2:c.4327+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.2:c.4141+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.2:c.4285+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.2:c.4264+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.2:c.4261+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.2:c.4423+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.2:c.4228+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.3:c.4213+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.2:c.4201+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.2:c.4141+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.2:c.4297+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.2:c.4126+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.2:c.4192+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.2:c.4264+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.2:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.2:c.4042+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.2:c.1954+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.2:c.1990+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.2:c.1975+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.2:c.1954+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.2:c.1990+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386143.1:c.4363+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386144.1:c.4471+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386146.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386147.1:c.4252+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386148.2:c.4411+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386149.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386150.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386151.1:c.4141+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386152.1:c.4483+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386153.1:c.4207+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386154.1:c.4192+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386156.1:c.4165+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386157.1:c.4042+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386158.1:c.3943+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386160.1:c.4270+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386161.1:c.4360+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386162.1:c.4240+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386167.1:c.826+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386186.2:c.4411+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386187.2:c.4291+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.5:c.4426+3114G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.4745G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386142.1:c.4511G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386166.1:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386174.1:c.4886G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386175.1:c.4862G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001361177Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Aug 13, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001433462Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 21, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001917510Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W; Uk10k Consortium, Plagnol V, Elliott PM.

J Med Genet. 2013 Apr;50(4):228-39. doi: 10.1136/jmedgenet-2012-101270. Epub 2013 Feb 8.

PubMed [citation]
PMID:
23396983
PMCID:
PMC3607113

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.

Ghouse J, Have CT, Weeke P, Bille Nielsen J, Ahlberg G, Balslev-Harder M, Appel EV, Skaaby T, Olesen SP, Grarup N, Linneberg A, Pedersen O, Haunsø S, Hastrup Svendsen J, Hansen T, Kanters JK, Salling Olesen M.

Eur Heart J. 2015 Oct 1;36(37):2523-9. doi: 10.1093/eurheartj/ehv297. Epub 2015 Jul 9.

PubMed [citation]
PMID:
26159999
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361177.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: ANK2 c.4745G>A (p.Arg1582Gln) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00076 in 281862 control chromosomes, predominantly at a frequency of 0.0015 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 150 fold of the estimated maximal expected allele frequency for a pathogenic variant in ANK2 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. c.4745G>A has been reported in the literature to be found in 3 heterozygotes, and their average QTc value was reported to be in the normal range. (Ghouse_2015). This report therefore does not support a pathogenic role for the variant. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Four laboratories classified the variant as likely benign, while one classified as VUS. Based on the evidence outlined above, the variant was classified as benign.

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

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute, SCV001433462.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001917510.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 13, 2025