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NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) AND Hereditary spherocytosis type 1

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Apr 25, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001802420.13

Allele description [Variation Report for NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)]

NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)

Gene:
ANK1:ankyrin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)
Other names:
p.Arg935*
HGVS:
  • NC_000008.11:g.41696520G>A
  • NG_012820.2:g.205243C>T
  • NM_000037.4:c.2803C>TMANE SELECT
  • NM_001142446.2:c.2926C>T
  • NM_020475.3:c.2803C>T
  • NM_020476.3:c.2803C>T
  • NM_020477.3:c.2803C>T
  • NP_000028.3:p.Arg935Ter
  • NP_001135918.1:p.Arg976Ter
  • NP_065208.2:p.Arg935Ter
  • NP_065209.2:p.Arg935Ter
  • NP_065210.2:p.Arg935Ter
  • NC_000008.10:g.41554038G>A
  • NM_000037.3:c.2803C>T
  • NM_000037.4:c.2803C>T
Protein change:
R935*
Links:
dbSNP: rs2150597061
NCBI 1000 Genomes Browser:
rs2150597061
Molecular consequence:
  • NM_000037.4:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142446.2:c.2926C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020475.3:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020476.3:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020477.3:c.2803C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary spherocytosis type 1
Synonyms:
Spherocytosis type 1; ANK1-Related Spherocytosis
Identifiers:
MONDO: MONDO:0008447; MedGen: C2674218; Orphanet: 822; OMIM: 182900

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV002048031ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
    criteria provided, single submitter

    (ARUP Molecular Germline Variant Investigation Process 2024)
    Pathogenic
    (Mar 29, 2023)
    germlineclinical testing

    Citation Link,

    SCV002499992Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University
    criteria provided, single submitter

    (ACMG Guidelines, 2015)
    Pathogenic
    (Mar 1, 2022)
    de novoresearch

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

    SCV003817329Revvity Omics, Revvity
    criteria provided, single submitter

    (ACMG Guidelines, 2015)
    Pathogenic
    (Apr 25, 2023)
    germlineclinical testing

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

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch
    not providedgermlineunknownnot providednot 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048031.4

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

    Description

    The ANK1 c.2803C>T; p.Arg935Ter variant is reported in the literature in multiple individuals with spherocytosis or hemolytic anemia (Choi 2019, Del Orbe Barreto 2016, Gao 2018, Muramatsu 2017, Tole 2020, Wang 2018). This variant is also reported in ClinVar (Variation ID: 1330761). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Choi HS et al. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte. Orphanet J Rare Dis. 2019 May 23. PMID: 31122244 Del Orbe Barreto R et al. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing. Int J Lab Hematol. 2016 Dec. PMID: 27427187 Gao Y et al. Diagnosis of Hereditary Spherocytosis and Secondary Hemochromatosis in a Patient with Jaundice. Acta Haematol. 2018 PMID: 29597199 Muramatsu H et al. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genet Med. 2017 Jul. PMID: 28102861 Tole S et al. Genotype-phenotype correlation in children with hereditary spherocytosis. Br J Haematol. 2020 Nov. PMID: 32436265 Wang R et al. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. Sci China Life Sci. 2018 Aug. PMID: 29572776

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

    From Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, SCV002499992.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    From Revvity Omics, Revvity, SCV003817329.2

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

    Last Updated: Sep 29, 2024