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NM_000518.5(HBB):c.166del (p.Met56fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 11, 2019
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:
RCV001284631.1

Allele description [Variation Report for NM_000518.5(HBB):c.166del (p.Met56fs)]

NM_000518.5(HBB):c.166del (p.Met56fs)

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.166del (p.Met56fs)
Other names:
CD 55 (-A); Met56fs
HGVS:
  • NC_000011.10:g.5226726del
  • NG_000007.3:g.70890del
  • NG_042296.1:g.257del
  • NG_046672.1:g.4661del
  • NG_059281.1:g.5346del
  • NM_000518.5:c.166delMANE SELECT
  • NP_000509.1:p.Met56fs
  • LRG_1232t1:c.166del
  • LRG_1232:g.5346del
  • LRG_1232p1:p.Met56fs
  • NC_000011.9:g.5247956del
  • NM_000518.4:c.166del
Protein change:
M56fs
Links:
dbSNP: rs1847560717
NCBI 1000 Genomes Browser:
rs1847560717
Molecular consequence:
  • NM_000518.5:c.166del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
Unknown function

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
SCV001470518Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Dec 11, 2019) 		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 novel beta0-thalassemia mutation at codon 55 (-A) and a rare 17 bp deletion at codons 126-131 in the Indian population.

Nadkarni A, Sakaguchi T, Takaku H, Gorakshakar A, Phanasgaonkar S, Colah RB, Mohanty D, Kiyama R.

Hemoglobin. 2002 Feb;26(1):41-7.

PubMed [citation]
PMID:
11939511

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, SCV001470518.1

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

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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

Last Updated: Jun 23, 2024