NM_000518.5(HBB):c.224_229del (p.Gly75_Leu76del) AND HEMOGLOBIN ST. ANTOINE

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:: RCV000016610.12

Allele description [Variation Report for NM_000518.5(HBB):c.224_229del (p.Gly75_Leu76del)]

NM_000518.5(HBB):c.224_229del (p.Gly75_Leu76del)

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.224_229del (p.Gly75_Leu76del)

Other names:

Hb Saint-Antoine

HGVS:

NC_000011.10:g.5226664_5226669del
NG_000007.3:g.70947_70952del
NG_000007.3:g.70948_70953del
NG_042296.1:g.195_200del
NG_046672.1:g.4599_4604del
NG_053049.1:g.2985_2990del
NG_059281.1:g.5404_5409del
NM_000518.5:c.224_229delMANE SELECT
NP_000509.1:p.Gly75_Leu76del
LRG_1232t1:c.224_229del
HBB:c.223_228delGGCCTG
LRG_1232:g.5404_5409del
LRG_1232p1:p.Gly75_Leu76del
NC_000011.9:g.5247894_5247899del
NG_000007.3:g.70947_70952del

Protein change:

GLY74DEL AND LEU75DEL

Links:

HBVAR: 727; OMIM: 141900.0267; dbSNP: rs63750968

NCBI 1000 Genomes Browser:

rs63750968

Molecular consequence:

NM_000518.5:c.224_229del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: HEMOGLOBIN ST. ANTOINE
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036879	OMIM	no assertion criteria provided	other (Dec 12, 2017)	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

SCV000036879

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

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

Two new hemoglobin variants with deletion. Hemoglobin tours: Thr 8 7 (F 3 ) deleted and hemoglobin St Antoine: Gly-Leu 74-75 (E 18-19 deleted. Consequences for oxygen affinity and protein stability.

Wajcman H, Labie D, Schapira G.

Biochim Biophys Acta. 1973 Feb 21;295(2):495-504. No abstract available.

PubMed [citation]

PMID:: 4699574

Details of each submission

From OMIM, SCV000036879.4

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

Description

Two amino acids, glycine and leucine, are deleted from beta 74 and 75. See Wajcman et al. (1973).

#	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: Oct 26, 2024

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