NM_000518.5(HBB):c.328del (p.Val110fs) AND Beta zero thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1986
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:: RCV000016687.28

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:: Beta zero thalassemia
Identifiers:: MedGen: C0271980

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036957	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1986)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036957

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1986)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Characterization of a spontaneous mutation to a beta-thalassemia allele.

Kazazian HH Jr, Orkin SH, Boehm CD, Goff SC, Wong C, Dowling CE, Newburger PE, Knowlton RG, Brown V, Donis-Keller H.

Am J Hum Genet. 1986 Jun;38(6):860-7.

PubMed [citation]

PMID:: 3014870
PMCID:: PMC1684845

Details of each submission

From OMIM, SCV000036957.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Frameshift, -G, codon 109, GTG to TG, found in a Lithuanian by Kazazian et al. (1989).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 24, 2022

ClinVar

Relating variation to medicine