NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jul 8, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000998267.2

Allele description [Variation Report for NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)]

NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)

Gene:
ANK2:ankyrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q26
Genomic location:
Preferred name:
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)
HGVS:
  • NC_000004.12:g.113330289C>T
  • NG_009006.2:g.517207C>T
  • NM_001127493.2:c.2917C>T
  • NM_001148.6:c.2944C>TMANE SELECT
  • NM_001354225.1:c.2956C>T
  • NM_001354228.1:c.2944C>T
  • NM_001354230.1:c.3022C>T
  • NM_001354231.1:c.2986C>T
  • NM_001354232.1:c.2980C>T
  • NM_001354235.1:c.2941C>T
  • NM_001354236.1:c.2941C>T
  • NM_001354237.1:c.3022C>T
  • NM_001354239.1:c.2914C>T
  • NM_001354240.1:c.2989C>T
  • NM_001354241.1:c.2989C>T
  • NM_001354242.1:c.2986C>T
  • NM_001354243.1:c.2881C>T
  • NM_001354244.1:c.2878C>T
  • NM_001354245.1:c.2881C>T
  • NM_001354246.1:c.2941C>T
  • NM_001354249.1:c.2857C>T
  • NM_001354252.1:c.2914C>T
  • NM_001354253.1:c.2818C>T
  • NM_001354254.1:c.2893C>T
  • NM_001354255.1:c.2881C>T
  • NM_001354256.1:c.2878C>T
  • NM_001354257.1:c.2782C>T
  • NM_001354258.1:c.2944C>T
  • NM_001354260.1:c.2758C>T
  • NM_001354261.1:c.2902C>T
  • NM_001354262.1:c.2881C>T
  • NM_001354264.1:c.2857C>T
  • NM_001354265.1:c.2941C>T
  • NM_001354266.1:c.2857C>T
  • NM_001354267.1:c.2857C>T
  • NM_001354268.1:c.2845C>T
  • NM_001354269.1:c.2731C>T
  • NM_001354270.1:c.2818C>T
  • NM_001354271.1:c.2758C>T
  • NM_001354272.1:c.2914C>T
  • NM_001354273.1:c.2743C>T
  • NM_001354274.1:c.2842C>T
  • NM_001354275.1:c.2881C>T
  • NM_001354276.1:c.2857C>T
  • NM_001354277.1:c.2659C>T
  • NM_001354278.1:c.571C>T
  • NM_001354279.1:c.607C>T
  • NM_001354280.1:c.571C>T
  • NM_001354281.1:c.571C>T
  • NM_001354282.1:c.607C>T
  • NM_020977.4:c.2944C>T
  • NP_001120965.1:p.Arg973Ter
  • NP_001139.3:p.Arg982Ter
  • NP_001341154.1:p.Arg986Ter
  • NP_001341157.1:p.Arg982Ter
  • NP_001341159.1:p.Arg1008Ter
  • NP_001341160.1:p.Arg996Ter
  • NP_001341161.1:p.Arg994Ter
  • NP_001341164.1:p.Arg981Ter
  • NP_001341165.1:p.Arg981Ter
  • NP_001341166.1:p.Arg1008Ter
  • NP_001341168.1:p.Arg972Ter
  • NP_001341169.1:p.Arg997Ter
  • NP_001341170.1:p.Arg997Ter
  • NP_001341171.1:p.Arg996Ter
  • NP_001341172.1:p.Arg961Ter
  • NP_001341173.1:p.Arg960Ter
  • NP_001341174.1:p.Arg961Ter
  • NP_001341175.1:p.Arg981Ter
  • NP_001341178.1:p.Arg953Ter
  • NP_001341181.1:p.Arg972Ter
  • NP_001341182.1:p.Arg940Ter
  • NP_001341183.1:p.Arg965Ter
  • NP_001341184.1:p.Arg961Ter
  • NP_001341185.1:p.Arg960Ter
  • NP_001341186.1:p.Arg928Ter
  • NP_001341187.1:p.Arg982Ter
  • NP_001341189.1:p.Arg920Ter
  • NP_001341190.1:p.Arg968Ter
  • NP_001341191.1:p.Arg961Ter
  • NP_001341193.1:p.Arg953Ter
  • NP_001341194.1:p.Arg981Ter
  • NP_001341195.1:p.Arg953Ter
  • NP_001341196.1:p.Arg953Ter
  • NP_001341197.1:p.Arg949Ter
  • NP_001341198.1:p.Arg911Ter
  • NP_001341199.1:p.Arg940Ter
  • NP_001341200.1:p.Arg920Ter
  • NP_001341201.1:p.Arg972Ter
  • NP_001341202.1:p.Arg915Ter
  • NP_001341203.1:p.Arg948Ter
  • NP_001341204.1:p.Arg961Ter
  • NP_001341205.1:p.Arg953Ter
  • NP_001341206.1:p.Arg887Ter
  • NP_001341207.1:p.Arg191Ter
  • NP_001341208.1:p.Arg203Ter
  • NP_001341209.1:p.Arg191Ter
  • NP_001341210.1:p.Arg191Ter
  • NP_001341211.1:p.Arg203Ter
  • NP_066187.2:p.Arg982Ter
  • LRG_327:g.517207C>T
  • NC_000004.11:g.114251445C>T
Protein change:
R1008*
Links:
dbSNP: rs1588354762
NCBI 1000 Genomes Browser:
rs1588354762
Molecular consequence:
  • NM_001127493.2:c.2917C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001148.6:c.2944C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354225.1:c.2956C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354228.1:c.2944C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354230.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354231.1:c.2986C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354232.1:c.2980C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354235.1:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354236.1:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354237.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354239.1:c.2914C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354240.1:c.2989C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354241.1:c.2989C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354242.1:c.2986C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354243.1:c.2881C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354244.1:c.2878C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354245.1:c.2881C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354246.1:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354249.1:c.2857C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354252.1:c.2914C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354253.1:c.2818C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354254.1:c.2893C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354255.1:c.2881C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354256.1:c.2878C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354257.1:c.2782C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354258.1:c.2944C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354260.1:c.2758C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354261.1:c.2902C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354262.1:c.2881C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354264.1:c.2857C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354265.1:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354266.1:c.2857C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354267.1:c.2857C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354268.1:c.2845C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354269.1:c.2731C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354270.1:c.2818C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354271.1:c.2758C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354272.1:c.2914C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354273.1:c.2743C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354274.1:c.2842C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354275.1:c.2881C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354276.1:c.2857C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354277.1:c.2659C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354278.1:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354279.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354280.1:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354281.1:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354282.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020977.4:c.2944C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001154238CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Mar 1, 2019)
germlineclinical testing

Citation Link,

SCV001448922Knight Diagnostic Laboratories, Oregon Health and Sciences Universitycriteria provided, single submitter
Pathogenic
(Jul 8, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001154238.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001448922.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

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