NM_000518.5(HBB):c.16C>T (p.Pro6Ser) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Sep 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001283417.2

Allele description [Variation Report for NM_000518.5(HBB):c.16C>T (p.Pro6Ser)]

NM_000518.5(HBB):c.16C>T (p.Pro6Ser)

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.16C>T (p.Pro6Ser)
Other names:
P5S; Hb Tyne
HGVS:
  • NC_000011.10:g.5227006G>A
  • NG_000007.3:g.70610C>T
  • NG_042296.1:g.537G>A
  • NG_046672.1:g.4941G>A
  • NG_059281.1:g.5066C>T
  • NM_000518.5:c.16C>TMANE SELECT
  • NP_000509.1:p.Pro6Ser
  • LRG_1232t1:c.16C>T
  • LRG_1232:g.5066C>T
  • LRG_1232p1:p.Pro6Ser
  • NC_000011.9:g.5248236G>A
  • NM_000518.4:c.16C>T
Protein change:
P6S; PRO5SER
Links:
HBVAR: 225; OMIM: 141900.0451; dbSNP: rs33912272
NCBI 1000 Genomes Browser:
rs33912272
Molecular consequence:
  • NM_000518.5:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883988ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Sep 6, 2019)
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, SCV000883988.2

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

Description

The Hb Tyne variant (HBB: c.16C>T; p.Pro6Ser, also known as Pro5Ser when numbered from the mature protein; rs33912272) has been described in the heterozygous state in individuals with normal hematological findings (Pullon 2017, HbVar database and references therein). However, the variant has also been observed in an individual with a clinical diagnosis of beta thalassemia who also carried HbS (Keser 2010). The proline at codon 5 is weakly conserved, and computational programs (PolyPhen-2, SIFT) predict that this variant is tolerated, although isopropanol stability tests indicate this variant is slightly unstable (Pullon 2017, HbVar database). Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. References: Link to HbVar database: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=225 Keser I et al. Abnormal hemoglobins associated with the beta-globin gene in Antalya province, Turkey. Turk J Med Sci. 2010;40(1): 127-131. Pullon BM and Brennan SO. Two familial cases of Hb Tyne confirm instability as cause of low expression. Thalassemia Reports. 2017; 7(1).

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

Last Updated: Nov 27, 2021

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