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NM_000518.5(HBB):c.146del (p.Leu49fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 18, 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:
RCV003478699.1

Allele description [Variation Report for NM_000518.5(HBB):c.146del (p.Leu49fs)]

NM_000518.5(HBB):c.146del (p.Leu49fs)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.146del (p.Leu49fs)
Other names:
CD 48 -T
HGVS:
  • NC_000011.10:g.5226746del
  • NG_000007.3:g.70870del
  • NG_042296.1:g.277del
  • NG_046672.1:g.4681del
  • NG_059281.1:g.5326del
  • NM_000518.5:c.146delMANE SELECT
  • NP_000509.1:p.Leu49fs
  • LRG_1232t1:c.146del
  • LRG_1232:g.5326del
  • LRG_1232p1:p.Leu49fs
  • NC_000011.9:g.5247976del
  • NM_000518.4:c.146del
Protein change:
L49fs
Links:
dbSNP: rs1847562491
NCBI 1000 Genomes Browser:
rs1847562491
Molecular consequence:
  • NM_000518.5:c.146del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219857Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Nov 18, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A new β⁰-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family.

Da Luz J, López P, Kimura EM, Albuquerque DM, Costa FF, Sans M, Sonati MF.

Int J Lab Hematol. 2013 Feb;35(1):111-4. doi: 10.1111/j.1751-553X.2012.01462.x. Epub 2012 Aug 17.

PubMed [citation]
PMID:
22898041

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, SCV004219857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This frameshift variant alters the translational reading frame of the HBB mRNA and causes the premature termination of HBB protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in multiple members of a family presenting with hypochromic and microcytic anemia (PMID: 22898041 (2013)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Jan 6, 2024