NM_000518.4(HBB):c.271G>A (p.Glu91Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 15, 2024
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:: RCV002222351.13

Allele description [Variation Report for NM_000518.4(HBB):c.271G>A (p.Glu91Lys)]

NM_000518.4(HBB):c.271G>A (p.Glu91Lys)

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.271G>A (p.Glu91Lys)

Other names:

E90K

HGVS:

NC_000011.10:g.5226621C>T
NG_000007.3:g.70995G>A
NG_042296.1:g.152C>T
NG_046672.1:g.4556C>T
NG_053049.1:g.2942C>T
NG_059281.1:g.5451G>A
NM_000518.5:c.271G>AMANE SELECT
NP_000509.1:p.Glu91Lys
LRG_1232t1:c.271G>A
LRG_1232:g.5451G>A
LRG_1232p1:p.Glu91Lys
NC_000011.9:g.5247851C>T
NM_000518.4:c.271G>A
P68871:p.Glu91Lys

Protein change:

E91K; GLU90LYS

Links:

HBVAR: 424; UniProtKB: P68871#VAR_002998; OMIM: 141900.0003; OMIM: 141900.0521; dbSNP: rs33913712

NCBI 1000 Genomes Browser:

rs33913712

Molecular consequence:

NM_000518.5:c.271G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002500601	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (May 15, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 15543018, 9785927, 7852091, 31139532, 30489691, 26864977 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002500601

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(May 15, 2024)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel sickle hemoglobin: hemoglobin S-south end.

Luo HY, Adewoye AH, Eung SH, Skelton TP, Quillen K, McMahon L, Steinberg MH, Chui DH.

J Pediatr Hematol Oncol. 2004 Nov;26(11):773-6.

PubMed [citation]

PMID:: 15543018

Hemoglobin Agenogi [beta 90 (F6) Glu-->Lys] found in Piedmont. Case report.

Scimè-Degani V, Ivaldi G, David O, De Paola M, Rabino-Massa E, Ricco G.

Panminerva Med. 1998 Sep;40(3):250-3.

PubMed [citation]

PMID:: 9785927

See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002500601.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

Variant summary: HBB c.271G>A (p.Glu91Lys) results in a conservative amino acid change located in the Globin of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251422 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. 271G>A has been reported in the literature in individuals without clear phenotype related to Hemoglobinopathy (examples: Paleari_1994, Panyasai_2016, Nadkarni_2018 , Yamane_2019, Luo_2004). These reports do not provide unequivocal conclusions about association of the variant with Hemoglobinopathy. The following publications have been ascertained in the context of this evaluation (PMID: 15543018, 7852091, 9785927, 31139532, 26864977, 30489691). ClinVar contains an entry for this variant (Variation ID: 15091). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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