NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000508637.2

Allele description [Variation Report for NM_000518.5(HBB):c.59A>G (p.Asn20Ser)]

NM_000518.5(HBB):c.59A>G (p.Asn20Ser)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
Other names:
N19S; 19A>G
HGVS:
  • NC_000011.10:g.5226963T>C
  • NG_000007.3:g.70653A>G
  • NG_042296.1:g.494T>C
  • NG_046672.1:g.4898T>C
  • NG_059281.1:g.5109A>G
  • NM_000518.5:c.59A>GMANE SELECT
  • NP_000509.1:p.Asn20Ser
  • LRG_1232t1:c.59A>G
  • LRG_1232:g.5109A>G
  • LRG_1232p1:p.Asn20Ser
  • NC_000011.9:g.5248193T>C
  • NM_000518.4:c.59A>G
  • P68871:p.Asn20Ser
  • c.56A>G
  • p.Asn19Ser
Protein change:
N20S; ASN19SER
Links:
UniProtKB: P68871#VAR_002888; OMIM: 141900.0168; dbSNP: rs33972047
NCBI 1000 Genomes Browser:
rs33972047
Molecular consequence:
  • NM_000518.5:c.59A>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
SCV000605846Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Jun 30, 2017)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

SCV002023453PerkinElmer Genomicsno assertion criteria providedLikely pathogenic
(Sep 12, 2019)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.

Yang KG, Kutlar F, George E, Wilson JB, Kutlar A, Stoming TA, Gonzalez-Redondo JM, Huisman TH.

Br J Haematol. 1989 May;72(1):73-80.

PubMed [citation]
PMID:
2736244

The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.

Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ.

Am J Hum Genet. 1990 Sep;47(3):369-75.

PubMed [citation]
PMID:
2393018
PMCID:
PMC1683861
See all PubMed Citations (8)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000605846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From PerkinElmer Genomics, SCV002023453.1

#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: Nov 28, 2021

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