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NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND HBB-related condition

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 9, 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:
RCV003914848.1

Allele description

NM_000518.5(HBB):c.126_129del (p.Phe42fs)

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.126_129del (p.Phe42fs)
Other names:
41/42-TTCT; CD 41/42 (-CTTT)
HGVS:
  • NC_000011.10:g.5226765_5226768del
  • NG_000007.3:g.70850_70853del
  • NG_042296.1:g.296_299del
  • NG_046672.1:g.4700_4703del
  • NG_059281.1:g.5306_5309del
  • NM_000518.5:c.126_129delMANE SELECT
  • NP_000509.1:p.Phe42fs
  • LRG_1232t1:c.126_129del
  • HBB:c.126_129delCTTT
  • LRG_1232:g.5306_5309del
  • LRG_1232p1:p.Phe42fs
  • NC_000011.10:g.5226763_5226766del
  • NC_000011.9:g.5247993_5247996del
  • NC_000011.9:g.5247993_5247996del
  • NC_000011.9:g.5247995_5247998del
  • NC_000011.9:g.5247995_5247998delAGAA
  • NM_000518.4:c.124_127delTTCT
  • NM_000518.4:c.126_129delCTTT
  • NM_000518.5:c.126_129delCTTTMANE SELECT
  • NP_000509.1:p.Phe42fs
  • p.Phe42Leufs*19
  • p.Phe42LeufsTer17
Protein change:
F42fs
Links:
Genetic Testing Registry (GTR): GTR000500319; HBVAR: 849; OMIM: 141900.0326; dbSNP: rs80356821
NCBI 1000 Genomes Browser:
rs80356821
Molecular consequence:
  • NM_000518.5:c.126_129del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
HBB-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004732710PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 9, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004732710.1

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

Description

The HBB c.126_129delCTTT variant is predicted to result in a frameshift and premature protein termination (p.Phe42Leufs*19). This variant was reported in individuals with beta-thalassemia (see for example Kazazian et al. 1984. PubMed ID: 6714226; Lau et al. 1997. PubMed ID: 9113933; Lin et al. 2021. PubMed ID: 34271589). This variant is reported in 0.23% of alleles in individuals of East Asian descent in gnomAD. Frameshift variants in HBB are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: May 7, 2024