NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) AND not provided

Clinical significance:Benign (Last evaluated: Jun 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000589293.4

Allele description [Variation Report for NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)]

NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)
HGVS:
  • NC_000004.12:g.113355266C>G
  • NG_009006.2:g.542184C>G
  • NM_001127493.2:c.4399+5017C>G
  • NM_001148.6:c.6648C>GMANE SELECT
  • NM_001354225.1:c.4438+5017C>G
  • NM_001354228.1:c.4327+5017C>G
  • NM_001354230.1:c.4405+5017C>G
  • NM_001354231.1:c.4468+5017C>G
  • NM_001354232.1:c.4462+5017C>G
  • NM_001354235.1:c.4423+5017C>G
  • NM_001354236.1:c.4324+5017C>G
  • NM_001354237.1:c.4504+5017C>G
  • NM_001354239.1:c.4396+5017C>G
  • NM_001354240.1:c.4471+5017C>G
  • NM_001354241.1:c.4471+5017C>G
  • NM_001354242.1:c.4468+5017C>G
  • NM_001354243.1:c.4363+5017C>G
  • NM_001354244.1:c.4360+5017C>G
  • NM_001354245.1:c.4264+5017C>G
  • NM_001354246.1:c.4423+5017C>G
  • NM_001354249.1:c.4240+5017C>G
  • NM_001354252.1:c.4396+5017C>G
  • NM_001354253.1:c.4201+5017C>G
  • NM_001354254.1:c.4375+5017C>G
  • NM_001354255.1:c.4363+5017C>G
  • NM_001354256.1:c.4360+5017C>G
  • NM_001354257.1:c.4165+5017C>G
  • NM_001354258.1:c.4327+5017C>G
  • NM_001354260.1:c.4141+5017C>G
  • NM_001354261.1:c.4285+5017C>G
  • NM_001354262.1:c.4264+5017C>G
  • NM_001354264.1:c.4261+5017C>G
  • NM_001354265.1:c.4423+5017C>G
  • NM_001354266.1:c.4240+5017C>G
  • NM_001354267.1:c.4240+5017C>G
  • NM_001354268.1:c.4228+5017C>G
  • NM_001354269.1:c.4213+5017C>G
  • NM_001354270.1:c.4201+5017C>G
  • NM_001354271.1:c.4141+5017C>G
  • NM_001354272.1:c.4297+5017C>G
  • NM_001354273.1:c.4126+5017C>G
  • NM_001354274.1:c.4192+5017C>G
  • NM_001354275.1:c.4264+5017C>G
  • NM_001354276.1:c.4240+5017C>G
  • NM_001354277.1:c.4042+5017C>G
  • NM_001354278.1:c.1954+5017C>G
  • NM_001354279.1:c.1990+5017C>G
  • NM_001354280.1:c.1975+5017C>G
  • NM_001354281.1:c.1954+5017C>G
  • NM_001354282.1:c.1990+5017C>G
  • NM_020977.4:c.4426+5017C>G
  • NP_001139.3:p.Gly2216=
  • LRG_327t1:c.6648C>G
  • LRG_327:g.542184C>G
  • NC_000004.11:g.114276422C>G
  • NM_001148.4:c.6648C>G
Links:
dbSNP: rs140926982
NCBI 1000 Genomes Browser:
rs140926982
Molecular consequence:
  • NM_001127493.2:c.4399+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4438+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4327+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4405+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4468+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4462+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4423+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4324+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4504+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4396+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4471+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4471+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4468+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4363+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4360+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4264+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4423+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4240+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4396+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4201+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4375+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4363+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4360+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4165+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4327+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4141+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4285+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4264+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4261+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4423+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4240+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4240+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4228+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4213+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4201+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4141+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4297+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4126+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4192+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4264+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4240+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4042+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1954+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1990+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1975+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1954+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1990+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4426+5017C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.6648C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000697743Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Jun 26, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001851053GeneDxno assertion criteria provided
Benign
(Mar 3, 2015)
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, SCV000697743.1

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

Description

Variant summary: The ANK2 c.6648C>G (p.Gly2216Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict loss/weakening effect on a cryptic splicing acceptor site. 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 276/120418 control chromosomes (2 homozygotes) at a frequency of 0.002292, which is approximately 229 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; 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, SCV001851053.1

#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 12, 2021

Support Center