NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) AND not provided

Clinical significance:Benign (Last evaluated: Mar 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000586248.3

Allele description [Variation Report for NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)]

NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)
HGVS:
  • NC_000004.12:g.113357679G>A
  • NG_009006.2:g.544597G>A
  • NM_001127493.2:c.4400-3144G>A
  • NM_001148.6:c.9061G>AMANE SELECT
  • NM_001354225.1:c.4439-3144G>A
  • NM_001354228.1:c.4328-3144G>A
  • NM_001354230.1:c.4406-3144G>A
  • NM_001354231.1:c.4469-3144G>A
  • NM_001354232.1:c.4463-3144G>A
  • NM_001354235.1:c.4424-3144G>A
  • NM_001354236.1:c.4325-3144G>A
  • NM_001354237.1:c.4505-3144G>A
  • NM_001354239.1:c.4397-3144G>A
  • NM_001354240.1:c.4472-3144G>A
  • NM_001354241.1:c.4472-3144G>A
  • NM_001354242.1:c.4469-3144G>A
  • NM_001354243.1:c.4364-3144G>A
  • NM_001354244.1:c.4361-3144G>A
  • NM_001354245.1:c.4265-3144G>A
  • NM_001354246.1:c.4424-3144G>A
  • NM_001354249.1:c.4241-3144G>A
  • NM_001354252.1:c.4397-3144G>A
  • NM_001354253.1:c.4202-3144G>A
  • NM_001354254.1:c.4376-3144G>A
  • NM_001354255.1:c.4364-3144G>A
  • NM_001354256.1:c.4361-3144G>A
  • NM_001354257.1:c.4166-3144G>A
  • NM_001354258.1:c.4328-3144G>A
  • NM_001354260.1:c.4142-3144G>A
  • NM_001354261.1:c.4286-3144G>A
  • NM_001354262.1:c.4265-3144G>A
  • NM_001354264.1:c.4262-3144G>A
  • NM_001354265.1:c.4424-3144G>A
  • NM_001354266.1:c.4241-3144G>A
  • NM_001354267.1:c.4241-3144G>A
  • NM_001354268.1:c.4229-3144G>A
  • NM_001354269.1:c.4214-3144G>A
  • NM_001354270.1:c.4202-3144G>A
  • NM_001354271.1:c.4142-3144G>A
  • NM_001354272.1:c.4298-3144G>A
  • NM_001354273.1:c.4127-3144G>A
  • NM_001354274.1:c.4193-3144G>A
  • NM_001354275.1:c.4265-3144G>A
  • NM_001354276.1:c.4241-3144G>A
  • NM_001354277.1:c.4043-3144G>A
  • NM_001354278.1:c.1955-3144G>A
  • NM_001354279.1:c.1991-3144G>A
  • NM_001354280.1:c.1976-3144G>A
  • NM_001354281.1:c.1955-3144G>A
  • NM_001354282.1:c.1991-3144G>A
  • NM_020977.4:c.4427-3144G>A
  • NP_001139.3:p.Ala3021Thr
  • LRG_327t1:c.9061G>A
  • LRG_327:g.544597G>A
  • NC_000004.11:g.114278835G>A
  • NM_001148.4:c.9061G>A
Protein change:
A3021T
Links:
dbSNP: rs74348333
NCBI 1000 Genomes Browser:
rs74348333
Molecular consequence:
  • NM_001127493.2:c.4400-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4439-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4328-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4406-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4469-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4463-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4424-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4325-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4505-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4397-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4472-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4472-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4469-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4364-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4361-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4265-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4424-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4241-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4397-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4202-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4376-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4364-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4361-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4166-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4328-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4142-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4286-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4265-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4262-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4424-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4241-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4241-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4229-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4214-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4202-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4142-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4298-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4127-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4193-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4265-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4241-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4043-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1955-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1991-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1976-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1955-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1991-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4427-3144G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.9061G>A - 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
SCV000697747Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Mar 13, 2017)
germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Citations

PubMed

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697747.1

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

Description

Variant summary: The ANK2 c.9061G>A (p.Ala3021Thr) variant involves the alteration of a non-conserved nucleotide and is predicted to be benign by 4/5 in silico tools. This variant was found in 216/121234 control chromosomes (including 1 homozygote), predominantly observed in the African subpopulation at a frequency of 0.019865 (206/10370). This frequency is about 1986 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as Benign.

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

Last Updated: Jun 14, 2021

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