NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) AND not provided

Clinical significance:Benign (Last evaluated: Jun 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756993.3

Allele description [Variation Report for NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)]

NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)
HGVS:
  • NC_000004.12:g.113288458A>G
  • NG_009006.2:g.475376A>G
  • NM_001127493.2:c.2186A>G
  • NM_001148.6:c.2249A>GMANE SELECT
  • NM_001354225.1:c.2249A>G
  • NM_001354228.1:c.2249A>G
  • NM_001354230.1:c.2294A>G
  • NM_001354231.1:c.2294A>G
  • NM_001354232.1:c.2249A>G
  • NM_001354235.1:c.2249A>G
  • NM_001354236.1:c.2249A>G
  • NM_001354237.1:c.2294A>G
  • NM_001354239.1:c.2186A>G
  • NM_001354240.1:c.2294A>G
  • NM_001354241.1:c.2294A>G
  • NM_001354242.1:c.2294A>G
  • NM_001354243.1:c.2186A>G
  • NM_001354244.1:c.2186A>G
  • NM_001354245.1:c.2150A>G
  • NM_001354246.1:c.2249A>G
  • NM_001354249.1:c.2162A>G
  • NM_001354252.1:c.2186A>G
  • NM_001354253.1:c.2087A>G
  • NM_001354254.1:c.2186A>G
  • NM_001354255.1:c.2186A>G
  • NM_001354256.1:c.2186A>G
  • NM_001354257.1:c.2087A>G
  • NM_001354258.1:c.2249A>G
  • NM_001354260.1:c.2063A>G
  • NM_001354261.1:c.2207A>G
  • NM_001354262.1:c.2186A>G
  • NM_001354264.1:c.2162A>G
  • NM_001354265.1:c.2249A>G
  • NM_001354266.1:c.2162A>G
  • NM_001354267.1:c.2162A>G
  • NM_001354268.1:c.2150A>G
  • NM_001354269.1:c.2039A>G
  • NM_001354270.1:c.2087A>G
  • NM_001354271.1:c.2063A>G
  • NM_001354272.1:c.2186A>G
  • NM_001354273.1:c.2051A>G
  • NM_001354274.1:c.2162A>G
  • NM_001354275.1:c.2186A>G
  • NM_001354276.1:c.2162A>G
  • NM_001354277.1:c.1964A>G
  • NM_020977.4:c.2249A>G
  • NP_001120965.1:p.Gln729Arg
  • NP_001139.3:p.Gln750Arg
  • NP_001341154.1:p.Gln750Arg
  • NP_001341157.1:p.Gln750Arg
  • NP_001341159.1:p.Gln765Arg
  • NP_001341160.1:p.Gln765Arg
  • NP_001341161.1:p.Gln750Arg
  • NP_001341164.1:p.Gln750Arg
  • NP_001341165.1:p.Gln750Arg
  • NP_001341166.1:p.Gln765Arg
  • NP_001341168.1:p.Gln729Arg
  • NP_001341169.1:p.Gln765Arg
  • NP_001341170.1:p.Gln765Arg
  • NP_001341171.1:p.Gln765Arg
  • NP_001341172.1:p.Gln729Arg
  • NP_001341173.1:p.Gln729Arg
  • NP_001341174.1:p.Gln717Arg
  • NP_001341175.1:p.Gln750Arg
  • NP_001341178.1:p.Gln721Arg
  • NP_001341181.1:p.Gln729Arg
  • NP_001341182.1:p.Gln696Arg
  • NP_001341183.1:p.Gln729Arg
  • NP_001341184.1:p.Gln729Arg
  • NP_001341185.1:p.Gln729Arg
  • NP_001341186.1:p.Gln696Arg
  • NP_001341187.1:p.Gln750Arg
  • NP_001341189.1:p.Gln688Arg
  • NP_001341190.1:p.Gln736Arg
  • NP_001341191.1:p.Gln729Arg
  • NP_001341193.1:p.Gln721Arg
  • NP_001341194.1:p.Gln750Arg
  • NP_001341195.1:p.Gln721Arg
  • NP_001341196.1:p.Gln721Arg
  • NP_001341197.1:p.Gln717Arg
  • NP_001341198.1:p.Gln680Arg
  • NP_001341199.1:p.Gln696Arg
  • NP_001341200.1:p.Gln688Arg
  • NP_001341201.1:p.Gln729Arg
  • NP_001341202.1:p.Gln684Arg
  • NP_001341203.1:p.Gln721Arg
  • NP_001341204.1:p.Gln729Arg
  • NP_001341205.1:p.Gln721Arg
  • NP_001341206.1:p.Gln655Arg
  • NP_066187.2:p.Gln750Arg
  • LRG_327t1:c.2249A>G
  • LRG_327:g.475376A>G
  • NC_000004.11:g.114209614A>G
  • NM_001148.4:c.2249A>G
Protein change:
Q655R
Links:
dbSNP: rs371787039
NCBI 1000 Genomes Browser:
rs371787039
Molecular consequence:
  • NM_001127493.2:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001148.6:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354225.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354228.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354230.1:c.2294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354231.1:c.2294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354232.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354235.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354236.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354237.1:c.2294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354239.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354240.1:c.2294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354241.1:c.2294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354242.1:c.2294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354243.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354244.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354245.1:c.2150A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354246.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354249.1:c.2162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354252.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354253.1:c.2087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354254.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354255.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354256.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354257.1:c.2087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354258.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354260.1:c.2063A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354261.1:c.2207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354262.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354264.1:c.2162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354265.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354266.1:c.2162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354267.1:c.2162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354268.1:c.2150A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354269.1:c.2039A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354270.1:c.2087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354271.1:c.2063A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354272.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354273.1:c.2051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354274.1:c.2162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354275.1:c.2186A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354276.1:c.2162A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354277.1:c.1964A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020977.4:c.2249A>G - 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
SCV000885010ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Jun 20, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 23, 2021

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