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NM_000518.5(HBB):c.257T>C (p.Phe86Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003114195.3

Allele description [Variation Report for NM_000518.5(HBB):c.257T>C (p.Phe86Ser)]

NM_000518.5(HBB):c.257T>C (p.Phe86Ser)

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.257T>C (p.Phe86Ser)
Other names:
F85S; Hb Bryn Mawr; Hb Buenos Aires
HGVS:
  • NC_000011.10:g.5226635A>G
  • NG_000007.3:g.70981T>C
  • NG_042296.1:g.166A>G
  • NG_046672.1:g.4570A>G
  • NG_053049.1:g.2956A>G
  • NG_059281.1:g.5437T>C
  • NM_000518.5:c.257T>CMANE SELECT
  • NP_000509.1:p.Phe86Ser
  • LRG_1232t1:c.257T>C
  • LRG_1232:g.5437T>C
  • LRG_1232p1:p.Phe86Ser
  • NC_000011.9:g.5247865A>G
  • NM_000518.4:c.257T>C
Protein change:
F86S; PHE85SER
Links:
HBVAR: 414; OMIM: 141900.0034; dbSNP: rs35693898
NCBI 1000 Genomes Browser:
rs35693898
Molecular consequence:
  • NM_000518.5:c.257T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003799698ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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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, SCV003799698.2

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

Description

The Hb Buenos Aires variant (HBB: c.257T>C; p.Phe86Ser, also known as Hb Bryn Mawr, and as Phe85Ser when numbered from the mature protein, rs35693898, HbVar ID: 414) is reported in the literature in heterozygous individuals affected with hemolytic anemia (see HbVar and references therein). The is variant is reported as unstable with increased oxygen affinity (see HbVar). This variant is reported in ClinVar (Variation ID: 15122) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The phenylalanine at codon 86 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.804). Based on available information, this variant is considered to be pathogenic. References: Link to HbVar database: https://globin.bx.psu.edu/hbvar/menu.html

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

Last Updated: Mar 4, 2023