NM_001148.6(ANK2):c.5985G>A (p.Lys1995=) AND not provided

Clinical significance:Benign (Last evaluated: Sep 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000589398.3

Allele description [Variation Report for NM_001148.6(ANK2):c.5985G>A (p.Lys1995=)]

NM_001148.6(ANK2):c.5985G>A (p.Lys1995=)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.5985G>A (p.Lys1995=)
HGVS:
  • NC_000004.12:g.113354603G>A
  • NG_009006.2:g.541521G>A
  • NM_001127493.2:c.4399+4354G>A
  • NM_001148.6:c.5985G>AMANE SELECT
  • NM_001354225.1:c.4438+4354G>A
  • NM_001354228.1:c.4327+4354G>A
  • NM_001354230.1:c.4405+4354G>A
  • NM_001354231.1:c.4468+4354G>A
  • NM_001354232.1:c.4462+4354G>A
  • NM_001354235.1:c.4423+4354G>A
  • NM_001354236.1:c.4324+4354G>A
  • NM_001354237.1:c.4504+4354G>A
  • NM_001354239.1:c.4396+4354G>A
  • NM_001354240.1:c.4471+4354G>A
  • NM_001354241.1:c.4471+4354G>A
  • NM_001354242.1:c.4468+4354G>A
  • NM_001354243.1:c.4363+4354G>A
  • NM_001354244.1:c.4360+4354G>A
  • NM_001354245.1:c.4264+4354G>A
  • NM_001354246.1:c.4423+4354G>A
  • NM_001354249.1:c.4240+4354G>A
  • NM_001354252.1:c.4396+4354G>A
  • NM_001354253.1:c.4201+4354G>A
  • NM_001354254.1:c.4375+4354G>A
  • NM_001354255.1:c.4363+4354G>A
  • NM_001354256.1:c.4360+4354G>A
  • NM_001354257.1:c.4165+4354G>A
  • NM_001354258.1:c.4327+4354G>A
  • NM_001354260.1:c.4141+4354G>A
  • NM_001354261.1:c.4285+4354G>A
  • NM_001354262.1:c.4264+4354G>A
  • NM_001354264.1:c.4261+4354G>A
  • NM_001354265.1:c.4423+4354G>A
  • NM_001354266.1:c.4240+4354G>A
  • NM_001354267.1:c.4240+4354G>A
  • NM_001354268.1:c.4228+4354G>A
  • NM_001354269.1:c.4213+4354G>A
  • NM_001354270.1:c.4201+4354G>A
  • NM_001354271.1:c.4141+4354G>A
  • NM_001354272.1:c.4297+4354G>A
  • NM_001354273.1:c.4126+4354G>A
  • NM_001354274.1:c.4192+4354G>A
  • NM_001354275.1:c.4264+4354G>A
  • NM_001354276.1:c.4240+4354G>A
  • NM_001354277.1:c.4042+4354G>A
  • NM_001354278.1:c.1954+4354G>A
  • NM_001354279.1:c.1990+4354G>A
  • NM_001354280.1:c.1975+4354G>A
  • NM_001354281.1:c.1954+4354G>A
  • NM_001354282.1:c.1990+4354G>A
  • NM_020977.4:c.4426+4354G>A
  • NP_001139.3:p.Lys1995=
  • LRG_327t1:c.5985G>A
  • LRG_327:g.541521G>A
  • NC_000004.11:g.114275759G>A
  • NM_001148.4:c.5985G>A
Links:
dbSNP: rs116652427
NCBI 1000 Genomes Browser:
rs116652427
Molecular consequence:
  • NM_001127493.2:c.4399+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354225.1:c.4438+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354228.1:c.4327+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354230.1:c.4405+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354231.1:c.4468+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354232.1:c.4462+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354235.1:c.4423+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354236.1:c.4324+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354237.1:c.4504+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354239.1:c.4396+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354240.1:c.4471+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354241.1:c.4471+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354242.1:c.4468+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354243.1:c.4363+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354244.1:c.4360+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354245.1:c.4264+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354246.1:c.4423+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354249.1:c.4240+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354252.1:c.4396+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354253.1:c.4201+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354254.1:c.4375+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354255.1:c.4363+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354256.1:c.4360+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354257.1:c.4165+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354258.1:c.4327+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354260.1:c.4141+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354261.1:c.4285+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354262.1:c.4264+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354264.1:c.4261+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354265.1:c.4423+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354266.1:c.4240+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354267.1:c.4240+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354268.1:c.4228+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354269.1:c.4213+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354270.1:c.4201+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354271.1:c.4141+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354272.1:c.4297+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354273.1:c.4126+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354274.1:c.4192+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354275.1:c.4264+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354276.1:c.4240+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354277.1:c.4042+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354278.1:c.1954+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354279.1:c.1990+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354280.1:c.1975+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354281.1:c.1954+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354282.1:c.1990+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020977.4:c.4426+4354G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001148.6:c.5985G>A - 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
SCV000697740Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Sep 6, 2016)
germlineclinical testing

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697740.1

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

Description

Variant summary: The ANK2 c.5985G>A (p.Lys1995Lys) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant, and 5/5 splicing algorithms predict no significant change to normal splicing. This variant was found in 29/120876 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0027855 (28/10052). This frequency is about 279 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. 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

Last Updated: Jun 14, 2021

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