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NM_000518.5(HBB):c.345_348dup (p.His117fs) AND Hemoglobinopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 2023
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:
RCV003489626.1

Allele description [Variation Report for NM_000518.5(HBB):c.345_348dup (p.His117fs)]

NM_000518.5(HBB):c.345_348dup (p.His117fs)

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
Duplication
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.345_348dup (p.His117fs)
HGVS:
  • NC_000011.10:g.5225694_5225697dup
  • NG_000007.3:g.71919_71922dup
  • NG_046672.1:g.3629_3632dup
  • NG_053049.1:g.2015_2018dup
  • NG_059281.1:g.6375_6378dup
  • NM_000518.5:c.345_348dupMANE SELECT
  • NP_000509.1:p.His117fs
  • LRG_1232t1:c.345_348dup
  • LRG_1232:g.6375_6378dup
  • LRG_1232p1:p.His117fs
  • NC_000011.9:g.5246924_5246927dup
  • NM_000518.5:c.345_348dupGGCCMANE SELECT
Protein change:
H117fs
Molecular consequence:
  • NM_000518.5:c.345_348dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hemoglobinopathy
Synonyms:
Hemoglobin disorder; Haemoglobinopathies
Identifiers:
MONDO: MONDO:0044348; MedGen: C0019045

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004241552Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Dec 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004241552.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: HBB c.345_348dupGGCC (p.His117GlyfsX25) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein. Variants downstream of this position have been classified as pathogenic by our laboratory and in ClinVar. The variant was absent in 251276 control chromosomes (gnomAD). To our knowledge, no occurrence of c.345_348dupGGCC in individuals affected with Hemoglobinopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Feb 14, 2024