NM_000517.6(HBA2):c.301-24delinsCTCGGCCC AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284145.1

Allele description [Variation Report for NM_000517.6(HBA2):c.301-24delinsCTCGGCCC]

NM_000517.6(HBA2):c.301-24delinsCTCGGCCC

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC
Other names:
IVS II-119 (-G) (+CTCGGCCC)
HGVS:
  • NC_000016.10:g.173448delinsCTCGGCCC
  • NG_000006.1:g.34311delinsCTCGGCCC
  • NG_046165.1:g.3187delinsCTCGGCCC
  • NG_059186.1:g.1798delinsCTCGGCCC
  • NG_059271.1:g.5602delinsCTCGGCCC
  • NM_000517.6:c.301-24delinsCTCGGCCCMANE SELECT
  • LRG_1240t1:c.301-24delinsCTCGGCCC
  • LRG_1225:g.1798delinsCTCGGCCC
  • LRG_1240:g.5602delinsCTCGGCCC
  • NC_000016.9:g.223447delGinsCTCGGCCC
  • NC_000016.9:g.223447delinsCTCGGCCC
  • NM_000517.4:c.301-24delinsCTCGGCCC
Links:
dbSNP: rs1596570272
NCBI 1000 Genomes Browser:
rs1596570272
Molecular consequence:
  • NM_000517.6:c.301-24delinsCTCGGCCC - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469771Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jan 30, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Identification of a variation in the IVSII of α2 gene and its frequency in the population of Guangxi.

Pang W, Weng X, Ye X, Long J, Wu S, Sun L, Wei C, Chen M, Tang W, Qiu S, Zhang C.

Gene. 2016 May 25;583(1):24-8. doi: 10.1016/j.gene.2016.02.041. Epub 2016 Feb 28.

PubMed [citation]
PMID:
26930363

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469771.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 30, 2021

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