NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) AND not provided

Clinical significance:Benign (Last evaluated: Jan 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000590594.4

Allele description [Variation Report for NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)]

NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)
HGVS:
  • NC_000004.12:g.113367714C>T
  • NG_009006.2:g.554632C>T
  • NM_001127493.2:c.4899C>T
  • NM_001148.6:c.11181C>TMANE SELECT
  • NM_001354225.1:c.4938C>T
  • NM_001354228.1:c.4827C>T
  • NM_001354230.1:c.4905C>T
  • NM_001354231.1:c.4968C>T
  • NM_001354232.1:c.4962C>T
  • NM_001354235.1:c.4923C>T
  • NM_001354236.1:c.4824C>T
  • NM_001354237.1:c.5004C>T
  • NM_001354239.1:c.4896C>T
  • NM_001354240.1:c.4971C>T
  • NM_001354241.1:c.4971C>T
  • NM_001354242.1:c.4968C>T
  • NM_001354243.1:c.4863C>T
  • NM_001354244.1:c.4860C>T
  • NM_001354245.1:c.4764C>T
  • NM_001354246.1:c.4923C>T
  • NM_001354249.1:c.4740C>T
  • NM_001354252.1:c.4896C>T
  • NM_001354253.1:c.4701C>T
  • NM_001354254.1:c.4875C>T
  • NM_001354255.1:c.4863C>T
  • NM_001354256.1:c.4860C>T
  • NM_001354257.1:c.4665C>T
  • NM_001354258.1:c.4827C>T
  • NM_001354260.1:c.4641C>T
  • NM_001354261.1:c.4785C>T
  • NM_001354262.1:c.4764C>T
  • NM_001354264.1:c.4761C>T
  • NM_001354265.1:c.4923C>T
  • NM_001354266.1:c.4740C>T
  • NM_001354267.1:c.4740C>T
  • NM_001354268.1:c.4728C>T
  • NM_001354269.1:c.4713C>T
  • NM_001354270.1:c.4701C>T
  • NM_001354271.1:c.4641C>T
  • NM_001354272.1:c.4797C>T
  • NM_001354273.1:c.4626C>T
  • NM_001354274.1:c.4692C>T
  • NM_001354275.1:c.4764C>T
  • NM_001354276.1:c.4740C>T
  • NM_001354277.1:c.4542C>T
  • NM_001354278.1:c.2454C>T
  • NM_001354279.1:c.2490C>T
  • NM_001354280.1:c.2475C>T
  • NM_001354281.1:c.2454C>T
  • NM_001354282.1:c.2490C>T
  • NM_020977.4:c.4926C>T
  • NP_001120965.1:p.Gly1633=
  • NP_001139.3:p.Gly3727=
  • NP_001341154.1:p.Gly1646=
  • NP_001341157.1:p.Gly1609=
  • NP_001341159.1:p.Gly1635=
  • NP_001341160.1:p.Gly1656=
  • NP_001341161.1:p.Gly1654=
  • NP_001341164.1:p.Gly1641=
  • NP_001341165.1:p.Gly1608=
  • NP_001341166.1:p.Gly1668=
  • NP_001341168.1:p.Gly1632=
  • NP_001341169.1:p.Gly1657=
  • NP_001341170.1:p.Gly1657=
  • NP_001341171.1:p.Gly1656=
  • NP_001341172.1:p.Gly1621=
  • NP_001341173.1:p.Gly1620=
  • NP_001341174.1:p.Gly1588=
  • NP_001341175.1:p.Gly1641=
  • NP_001341178.1:p.Gly1580=
  • NP_001341181.1:p.Gly1632=
  • NP_001341182.1:p.Gly1567=
  • NP_001341183.1:p.Gly1625=
  • NP_001341184.1:p.Gly1621=
  • NP_001341185.1:p.Gly1620=
  • NP_001341186.1:p.Gly1555=
  • NP_001341187.1:p.Gly1609=
  • NP_001341189.1:p.Gly1547=
  • NP_001341190.1:p.Gly1595=
  • NP_001341191.1:p.Gly1588=
  • NP_001341193.1:p.Gly1587=
  • NP_001341194.1:p.Gly1641=
  • NP_001341195.1:p.Gly1580=
  • NP_001341196.1:p.Gly1580=
  • NP_001341197.1:p.Gly1576=
  • NP_001341198.1:p.Gly1571=
  • NP_001341199.1:p.Gly1567=
  • NP_001341200.1:p.Gly1547=
  • NP_001341201.1:p.Gly1599=
  • NP_001341202.1:p.Gly1542=
  • NP_001341203.1:p.Gly1564=
  • NP_001341204.1:p.Gly1588=
  • NP_001341205.1:p.Gly1580=
  • NP_001341206.1:p.Gly1514=
  • NP_001341207.1:p.Gly818=
  • NP_001341208.1:p.Gly830=
  • NP_001341209.1:p.Gly825=
  • NP_001341210.1:p.Gly818=
  • NP_001341211.1:p.Gly830=
  • NP_066187.2:p.Gly1642=
  • LRG_327t1:c.11181C>T
  • LRG_327:g.554632C>T
  • NC_000004.11:g.114288870C>T
  • NM_001148.4:c.11181C>T
  • NM_001148.5:c.11181C>T
Links:
dbSNP: rs185569619
NCBI 1000 Genomes Browser:
rs185569619
Molecular consequence:
  • NM_001127493.2:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001148.6:c.11181C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354225.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354228.1:c.4827C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354230.1:c.4905C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354231.1:c.4968C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354232.1:c.4962C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354235.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354236.1:c.4824C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354237.1:c.5004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354239.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354240.1:c.4971C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354241.1:c.4971C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354242.1:c.4968C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354243.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354244.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354245.1:c.4764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354246.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354249.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354252.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354253.1:c.4701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354254.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354255.1:c.4863C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354256.1:c.4860C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354257.1:c.4665C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354258.1:c.4827C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354260.1:c.4641C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354261.1:c.4785C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354262.1:c.4764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354264.1:c.4761C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354265.1:c.4923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354266.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354267.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354268.1:c.4728C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354269.1:c.4713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354270.1:c.4701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354271.1:c.4641C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354272.1:c.4797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354273.1:c.4626C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354274.1:c.4692C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354275.1:c.4764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354276.1:c.4740C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354277.1:c.4542C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354278.1:c.2454C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354279.1:c.2490C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354280.1:c.2475C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354281.1:c.2454C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354282.1:c.2490C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020977.4:c.4926C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000697721Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Jan 30, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001832023GeneDxno assertion criteria provided
Likely benign
(May 21, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697721.1

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

Description

Variant summary: The ANK2 c.11181C>T (p.Gly3727Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 33/121348 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.001643 (19/11564). This frequency is about 164 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 Latino origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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

From GeneDx, SCV001832023.1

#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: Sep 7, 2021

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