NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) AND beta Thalassemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000029966.2

Allele description [Variation Report for NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)]

NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)

Genes:

LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

Indel

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)

HGVS:

NC_000011.10:g.5227002_5227003delinsAT
NG_000007.3:g.70613_70614delinsAT
NG_042296.1:g.533_534delinsAT
NG_046672.1:g.4937_4938delinsAT
NG_059281.1:g.5069_5070delinsAT
NM_000518.5:c.19_20delinsATMANE SELECT
NP_000509.1:p.Glu7Met
LRG_1232t1:c.19_20delinsAT
LRG_1232:g.5069_5070delinsAT
LRG_1232p1:p.Glu7Met
NC_000011.9:g.5248232_5248233delinsAT
NM_000518.4:c.19_20delGAinsAT
p.Glu7delinsMet

Protein change:

E7M

Links:

dbSNP: rs193922552

NCBI 1000 Genomes Browser:

rs193922552

Molecular consequence:

NM_000518.5:c.19_20delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: beta Thalassemia (BTHAL)
Synonyms:: Cooley's anemia; Erythroblastic anemia; Mediterranean anemia
Identifiers:: MONDO: MONDO:0019402; MedGen: C0005283; Orphanet: 848

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000052621	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	likely pathogenic (Aug 18, 2011)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000052621

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

likely pathogenic
(Aug 18, 2011)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	curation

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052621.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Oct 8, 2022

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