NM_000518.5(HBB):c.315G>C (p.Arg105Ser) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1996
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:: RCV000016789.28

Allele description [Variation Report for NM_000518.5(HBB):c.315G>C (p.Arg105Ser)]

NM_000518.5(HBB):c.315G>C (p.Arg105Ser)

Genes:

LOC106099062:HBB recombination region [Gene]
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.315G>C (p.Arg105Ser)

Other names:

R104S

HGVS:

NC_000011.10:g.5226577C>G
NG_000007.3:g.71039G>C
NG_042296.1:g.108C>G
NG_046672.1:g.4512C>G
NG_053049.1:g.2898C>G
NG_059281.1:g.5495G>C
NM_000518.5:c.315G>CMANE SELECT
NP_000509.1:p.Arg105Ser
LRG_1232t1:c.315G>C
LRG_1232:g.5495G>C
LRG_1232p1:p.Arg105Ser
NC_000011.9:g.5247807C>G
NM_000518.4:c.315G>C
P68871:p.Arg105Ser

Protein change:

R105S; ARG104SER

Links:

UniProtKB: P68871#VAR_003028; OMIM: 141900.0467; dbSNP: rs33914944

NCBI 1000 Genomes Browser:

rs33914944

Molecular consequence:

NM_000518.5:c.315G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: Hb camperdown
Identifiers:

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Gene ID:108707682

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037059	OMIM	no assertion criteria provided	Pathogenic (May 1, 1996)	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

SCV000037059

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1996)

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

Hb Camperdown [alpha 2 beta 2 104(G6)Arg-->Ser] identified by DNA analysis in a Brazilian family.

Miranda SR, Kimura EM, Teixeira RC, Bertuzzo CS, Ramalho AS, Saad ST, Costa FF.

Hemoglobin. 1996 May;20(2):147-53. No abstract available.

PubMed [citation]

PMID:: 8811319

Details of each submission

From OMIM, SCV000037059.3

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

Description

Miranda et al. (1996) described Hb Camperdown in a 24-year-old Brazilian woman of Italian origin. Although carriers do not show significant clinical alterations, Hb Camperdown is considered an unstable Hb.

#	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: Jun 9, 2024

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