NM_000518.4(HBB):c.157G>C (p.Asp53His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284630.1

Allele description [Variation Report for NM_000518.4(HBB):c.157G>C (p.Asp53His)]

NM_000518.4(HBB):c.157G>C (p.Asp53His)

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_000518.4(HBB):c.157G>C (p.Asp53His)
Other names:
D52H
HGVS:
  • NC_000011.10:g.5226735C>G
  • NG_000007.3:g.70881G>C
  • NG_042296.1:g.266C>G
  • NG_046672.1:g.4670C>G
  • NG_059281.1:g.5337G>C
  • NM_000518.5:c.157G>CMANE SELECT
  • NP_000509.1:p.Asp53His
  • LRG_1232t1:c.157G>C
  • LRG_1232:g.5337G>C
  • LRG_1232p1:p.Asp53His
  • NC_000011.9:g.5247965C>G
  • NM_000518.4:c.157G>C
  • P68871:p.Asp53His
Protein change:
D53H; ASP52HIS
Links:
HBVAR: 336; UniProtKB: P68871#VAR_002944; OMIM: 141900.0272; dbSNP: rs33961886
NCBI 1000 Genomes Browser:
rs33961886
Molecular consequence:
  • NM_000518.5:c.157G>C - 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
SCV001470517Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Aug 6, 2020)
unknownclinical testing

PubMed (4)
[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

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM.

Hemoglobin. 2016;40(2):75-84. doi: 10.3109/03630269.2015.1113990. Epub 2015 Dec 4. Review.

PubMed [citation]
PMID:
26635043
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470517.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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