NM_000518.5(HBB):c.122G>A (p.Arg41Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756230.3

Allele description [Variation Report for NM_000518.5(HBB):c.122G>A (p.Arg41Lys)]

NM_000518.5(HBB):c.122G>A (p.Arg41Lys)

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.122G>A (p.Arg41Lys)
Other names:
R40K; Hb Waco
HGVS:
  • NC_000011.10:g.5226770C>T
  • NG_000007.3:g.70846G>A
  • NG_042296.1:g.301C>T
  • NG_046672.1:g.4705C>T
  • NG_059281.1:g.5302G>A
  • NM_000518.5:c.122G>AMANE SELECT
  • NP_000509.1:p.Arg41Lys
  • LRG_1232t1:c.122G>A
  • HBB:c.122G>A
  • LRG_1232:g.5302G>A
  • LRG_1232p1:p.Arg41Lys
  • NC_000011.9:g.5248000C>T
  • NM_000518.4:c.122G>A
Protein change:
R41K; ARG40LYS
Links:
HBVAR: 310; OMIM: 141900.0011; dbSNP: rs34831026
NCBI 1000 Genomes Browser:
rs34831026
Molecular consequence:
  • NM_000518.5:c.122G>A - 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
SCV000889360Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Jun 4, 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

Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.

Moo-Penn WF, Hine TK, Johnson MH, Jue DL, Holland S, George S, Pierce AM, Michalski LA, McDonald MJ.

Hemoglobin. 1992;16(1-2):35-44.

PubMed [citation]
PMID:
1634360

Hemoglobin Athens-Georgia, or alpha 2 beta 2 40(C6)Arg replaced by Lys, a hemoglobin variant with an increased oxygen affinity.

Brown WJ, Niazi GA, Jayalakshmi M, Abraham EC, Huisman TH.

Biochim Biophys Acta. 1976 Jul 19;439(1):70-6.

PubMed [citation]
PMID:
8114
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889360.2

#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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