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NM_000518.5(HBB):c.235del (p.Leu79fs) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 17, 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:
RCV001001032.16

Allele description [Variation Report for NM_000518.5(HBB):c.235del (p.Leu79fs)]

NM_000518.5(HBB):c.235del (p.Leu79fs)

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.235del (p.Leu79fs)
HGVS:
  • NC_000011.10:g.5226658del
  • NG_000007.3:g.70959del
  • NG_042296.1:g.189del
  • NG_046672.1:g.4593del
  • NG_053049.1:g.2979del
  • NG_059281.1:g.5415del
  • NM_000518.5:c.235delMANE SELECT
  • NP_000509.1:p.Leu79fs
  • LRG_1232t1:c.235del
  • LRG_1232:g.5415del
  • LRG_1232p1:p.Leu79fs
  • NC_000011.9:g.5247888del
  • NC_000011.9:g.5247888delG
  • NM_000518.4:c.235del
  • NM_000518.4:c.235delC
  • NM_000518.5:c.235delCMANE SELECT
Protein change:
L79fs
Links:
OMIM: 141900.0529; dbSNP: rs281865475
NCBI 1000 Genomes Browser:
rs281865475
Molecular consequence:
  • NM_000518.5:c.235del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158144ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely pathogenic
(Jan 17, 2019) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158144.1

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

Description

The Cd77/78 (-C) variant (HBB c.235delC; p.Leu79fs variant, also known as Leu78fs when numbered from the mature protein, rs281865475) is reported in the literature in the heterozygous state in individuals affected with beta-thalassemia minor (see link to HbVar and references therein). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic. References: Link to HbVar for Cd77/78 (-C): http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=2533&.cgifields=histD

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

Last Updated: Nov 10, 2024