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NM_000517.6(HBA2):c.294C>A (p.Asn98Lys) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 30, 2021
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:
RCV001801079.14

Allele description [Variation Report for NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)]

NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.6(HBA2):c.294C>A (p.Asn98Lys)
Other names:
N97K; Hb Dallas
HGVS:
  • NC_000016.10:g.173323C>A
  • NG_000006.1:g.34186C>A
  • NG_046165.1:g.3062C>A
  • NG_059186.1:g.1673C>A
  • NG_059271.1:g.5477C>A
  • NG_115661.1:g.79C>A
  • NM_000517.6:c.294C>AMANE SELECT
  • NP_000508.1:p.Asn98Lys
  • LRG_1240t1:c.294C>A
  • LRG_1225:g.1673C>A
  • LRG_1240:g.5477C>A
  • LRG_1240p1:p.Asn98Lys
  • NC_000016.9:g.223322C>A
  • NM_000517.4:c.294C>A
Protein change:
N98K; ASN97LYS
Links:
HBVAR: 162; LOVD 3: HBA2_000411; OMIM: 141800.0025; OMIM: 141850.0075; dbSNP: rs41338947
NCBI 1000 Genomes Browser:
rs41338947
Molecular consequence:
  • NM_000517.6:c.294C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002046581Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jan 14, 2021) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002049898ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Uncertain significance
(Apr 30, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.

Molchanova TP, Pobedimskaya DD, Huisman TH.

Br J Haematol. 1994 Oct;88(2):300-6.

PubMed [citation]
PMID:
7803274

Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.

Canatan D, Delibas S.

Hemoglobin. 2016 Aug;40(4):273-6. doi: 10.3109/03630269.2016.1170030. Epub 2016 May 20.

PubMed [citation]
PMID:
27207683
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002049898.1

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

Description

The Hb Dallas variant (HBA2: c.294C>A; p.Asn98Lys, also known as Asn97Lys when numbered from the mature protein, rs41338947) has been reported in the literature in a heterozygote with mild erythrocytosis (see HbVar and references therein). However, the phenotype of this variant in the presence of other alpha globin variants is unknown. Functional analyses show the variant protein is stable but with increased oxygen affinity (HbVar, Lendaro 1992). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The asparagine at codon 98 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.888). However, given the lack of clinical and functional data, the significance of the p.Asn98Lys variant is uncertain at this time. References: HbVar for Hb Dallas: https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=162 Lendaro E et al. Hemoglobin Dallas (alpha 97(G4)Asn-->Lys): functional characterization of a high oxygen affinity natural mutant. Biochim Biophys Acta. 1992 Oct 13;1180(1):15-20. PMID: 1390940.

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

Last Updated: Oct 26, 2024