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NM_000518.5(HBB):c.126_129del (p.Phe42fs) AND Fetal hemoglobin quantitative trait locus 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 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:
RCV001262999.9

Allele description [Variation Report for NM_000518.5(HBB):c.126_129del (p.Phe42fs)]

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:
Fetal hemoglobin quantitative trait locus 1 (HBFQTL1)
Identifiers:
MedGen: C1841621; Orphanet: 251380

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441069Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnonot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001441069.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnonot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024