NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Mar 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621489.1

Allele description [Variation Report for NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)]

NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)
HGVS:
  • NC_000004.12:g.113255921G>A
  • NG_009006.2:g.442839G>A
  • NM_001127493.2:c.1114G>A
  • NM_001148.6:c.1177G>AMANE SELECT
  • NM_001354225.1:c.1177G>A
  • NM_001354228.1:c.1177G>A
  • NM_001354230.1:c.1222G>A
  • NM_001354231.1:c.1222G>A
  • NM_001354232.1:c.1177G>A
  • NM_001354235.1:c.1177G>A
  • NM_001354236.1:c.1177G>A
  • NM_001354237.1:c.1222G>A
  • NM_001354239.1:c.1114G>A
  • NM_001354240.1:c.1222G>A
  • NM_001354241.1:c.1222G>A
  • NM_001354242.1:c.1222G>A
  • NM_001354243.1:c.1114G>A
  • NM_001354244.1:c.1114G>A
  • NM_001354245.1:c.1177G>A
  • NM_001354246.1:c.1177G>A
  • NM_001354249.1:c.1090G>A
  • NM_001354252.1:c.1114G>A
  • NM_001354253.1:c.1114G>A
  • NM_001354254.1:c.1114G>A
  • NM_001354255.1:c.1114G>A
  • NM_001354256.1:c.1114G>A
  • NM_001354257.1:c.1114G>A
  • NM_001354258.1:c.1177G>A
  • NM_001354260.1:c.1090G>A
  • NM_001354261.1:c.1135G>A
  • NM_001354262.1:c.1114G>A
  • NM_001354264.1:c.1090G>A
  • NM_001354265.1:c.1177G>A
  • NM_001354266.1:c.1090G>A
  • NM_001354267.1:c.1090G>A
  • NM_001354268.1:c.1177G>A
  • NM_001354269.1:c.1165G>A
  • NM_001354270.1:c.1114G>A
  • NM_001354271.1:c.1090G>A
  • NM_001354272.1:c.1114G>A
  • NM_001354273.1:c.1177G>A
  • NM_001354274.1:c.1090G>A
  • NM_001354275.1:c.1114G>A
  • NM_001354276.1:c.1090G>A
  • NM_001354277.1:c.1090G>A
  • NM_020977.4:c.1177G>A
  • NP_001120965.1:p.Ala372Thr
  • NP_001139.3:p.Ala393Thr
  • NP_001341154.1:p.Ala393Thr
  • NP_001341157.1:p.Ala393Thr
  • NP_001341159.1:p.Ala408Thr
  • NP_001341160.1:p.Ala408Thr
  • NP_001341161.1:p.Ala393Thr
  • NP_001341164.1:p.Ala393Thr
  • NP_001341165.1:p.Ala393Thr
  • NP_001341166.1:p.Ala408Thr
  • NP_001341168.1:p.Ala372Thr
  • NP_001341169.1:p.Ala408Thr
  • NP_001341170.1:p.Ala408Thr
  • NP_001341171.1:p.Ala408Thr
  • NP_001341172.1:p.Ala372Thr
  • NP_001341173.1:p.Ala372Thr
  • NP_001341174.1:p.Ala393Thr
  • NP_001341175.1:p.Ala393Thr
  • NP_001341178.1:p.Ala364Thr
  • NP_001341181.1:p.Ala372Thr
  • NP_001341182.1:p.Ala372Thr
  • NP_001341183.1:p.Ala372Thr
  • NP_001341184.1:p.Ala372Thr
  • NP_001341185.1:p.Ala372Thr
  • NP_001341186.1:p.Ala372Thr
  • NP_001341187.1:p.Ala393Thr
  • NP_001341189.1:p.Ala364Thr
  • NP_001341190.1:p.Ala379Thr
  • NP_001341191.1:p.Ala372Thr
  • NP_001341193.1:p.Ala364Thr
  • NP_001341194.1:p.Ala393Thr
  • NP_001341195.1:p.Ala364Thr
  • NP_001341196.1:p.Ala364Thr
  • NP_001341197.1:p.Ala393Thr
  • NP_001341198.1:p.Ala389Thr
  • NP_001341199.1:p.Ala372Thr
  • NP_001341200.1:p.Ala364Thr
  • NP_001341201.1:p.Ala372Thr
  • NP_001341202.1:p.Ala393Thr
  • NP_001341203.1:p.Ala364Thr
  • NP_001341204.1:p.Ala372Thr
  • NP_001341205.1:p.Ala364Thr
  • NP_001341206.1:p.Ala364Thr
  • NP_066187.2:p.Ala393Thr
  • LRG_327t1:c.1177G>A
  • LRG_327:g.442839G>A
  • NC_000004.11:g.114177077G>A
  • NM_001148.4:c.1177G>A
Protein change:
A364T
Links:
dbSNP: rs147458476
NCBI 1000 Genomes Browser:
rs147458476
Molecular consequence:
  • NM_001127493.2:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.1:c.1135G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.1:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.4:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000735831Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 29, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D, Chung WK.

Genet Test Mol Biomarkers. 2013 Jul;17(7):553-61. doi: 10.1089/gtmb.2012.0118. Epub 2013 Apr 30.

PubMed [citation]
PMID:
23631430

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Ambry Genetics, SCV000735831.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.A393T variant (also known as c.1177G>A), located in coding exon 11 of the ANK2 gene, results from a G to A substitution at nucleotide position 1177. The alanine at codon 393 is replaced by threonine, an amino acid with similar properties. This alteration has been reported in an individual undergoing clinical long QT syndrome (LQTS) genetic testing and reported as a secondary cardiac variant in an exome cohort; however, clinical details are limited. (Lieve KV et al. Genet Test Mol Biomarkers, 2013 Jul;17:553-61; Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is highly conserved in available vertebrate species; however, threonine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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