NM_000518.5(HBB):c.11T>A (p.Leu4Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 13, 2017
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:: RCV000508469.2

Allele description [Variation Report for NM_000518.5(HBB):c.11T>A (p.Leu4Gln)]

NM_000518.5(HBB):c.11T>A (p.Leu4Gln)

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.11T>A (p.Leu4Gln)

HGVS:

NC_000011.10:g.5227011A>T
NG_000007.3:g.70605T>A
NG_042296.1:g.542A>T
NG_046672.1:g.4946A>T
NG_059281.1:g.5061T>A
NM_000518.5:c.11T>AMANE SELECT
NP_000509.1:p.Leu4Gln
LRG_1232t1:c.11T>A
LRG_1232:g.5061T>A
LRG_1232p1:p.Leu4Gln
NC_000011.9:g.5248241A>T
NM_000518.4:c.11T>A

Protein change:

L4Q

Links:

dbSNP: rs63750720

NCBI 1000 Genomes Browser:

rs63750720

Molecular consequence:

NM_000518.5:c.11T>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
SCV000601237	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Mar 13, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19429541, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000601237

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Mar 13, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis.

George Priya Doss C, Rao S.

N Biotechnol. 2009 Apr;25(4):214-9. doi: 10.1016/j.nbt.2009.01.004. Epub 2009 Jan 21.

PubMed [citation]

PMID:: 19429541

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601237.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Apr 23, 2022

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