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NM_000518.5(HBB):c.328del (p.Val110fs) AND HEMOGLOBIN MANHATTAN

Germline classification:
other (1 submission)
Last evaluated:
Dec 12, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002284171.1

Allele description [Variation Report for NM_000518.5(HBB):c.328del (p.Val110fs)]

NM_000518.5(HBB):c.328del (p.Val110fs)

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:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.328del (p.Val110fs)
Other names:
Hb Manhattan
HGVS:
  • NC_000011.10:g.5225714del
  • NG_000007.3:g.71902del
  • NG_046672.1:g.3649del
  • NG_053049.1:g.2035del
  • NG_059281.1:g.6358del
  • NM_000518.5:c.328delMANE SELECT
  • NP_000509.1:p.Val110fs
  • LRG_1232t1:c.328del
  • HBB:c.328delG
  • LRG_1232:g.6358del
  • LRG_1232p1:p.Val110fs
  • NC_000011.9:g.5246944del
  • NM_000518.4:c.328del
Protein change:
V110fs
Links:
HBVAR: 947; OMIM: 141900.0340; OMIM: 141900.0422; dbSNP: rs63751201
NCBI 1000 Genomes Browser:
rs63751201
Molecular consequence:
  • NM_000518.5:c.328del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
HEMOGLOBIN MANHATTAN
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037043OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

Kazazian HH Jr, Orkin SH, Boehm CD, Sexton JP, Antonarakis SE.

Am J Hum Genet. 1983 Sep;35(5):1028-33.

PubMed [citation]
PMID:
6310991
PMCID:
PMC1685822

Details of each submission

From OMIM, SCV000037043.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

As alleles of the HBB gene producing beta-thalassemia were discovered, it became evident that there is a relative paucity of beta-thalassemia mutations in exon 3 of HBB even though this exon accounts for about 30% of the coding region. It appears to be a general rule that 1-bp frameshift mutations and nonsense mutations early in exon 3 produce a chronic hemolytic anemia in the heterozygous state. On the other hand, mutations of this type in exons 1 and 2 in the heterozygous state produce beta-thalassemia trait with mild phenotypic deviations from the normal. Kazazian et al. (1992) reported another example of this rule: in a 78-year-old Lithuanian Ashkenazi Jew with chronic hemolytic anemia, they demonstrated a -1 frameshift (-G) in codon 109. The globin was termed beta-Manhattan for the site of residence of the patient.

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

Last Updated: Sep 24, 2022