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

Clinical significance:Uncertain significance (Last evaluated: Oct 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000506716.3

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603922ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Oct 11, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603922.2

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

Description

The Hb Summer Hill variant (c.157G>C, Asp52His) has been observed in a sample submitted for thalassemia/hemoglobinopathy screening (Turner 2016), but it is reported to be functionally equivalent to Hb A and is not associated with significant clinical symptoms (HbVar database and references therein). However, its phenotype when found with other globin variants is unknown. It is listed in the dbSNP variant database (rs33961886), but not observed in the general population databases (1000 Genomes Project, Exome Variant Server, Exome Aggregation Consortium). The aspartate at residue 52 is weakly conserved, but computational algorithms (Align GVGD, Mutation Taster, PolyPhen-2, SIFT) are inconclusive on the variant's impact on the protein. Due to the limited information regarding this variant, its clinical significance is uncertain. References: Link to HbVar database for Hb Summer Hill: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=336 Turner A et al. Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). BMC Med Genet. 2016 Oct 19;17(1):75.

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

Last Updated: Nov 27, 2021

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