NM_000518.5(HBB):c.328G>A (p.Val110Met) AND HEMOGLOBIN SAN DIEGO

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:: RCV000016585.4

Allele description [Variation Report for NM_000518.5(HBB):c.328G>A (p.Val110Met)]

NM_000518.5(HBB):c.328G>A (p.Val110Met)

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:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.328G>A (p.Val110Met)

Other names:

V109M

HGVS:

NC_000011.10:g.5225714C>T
NG_000007.3:g.71902G>A
NG_046672.1:g.3649C>T
NG_053049.1:g.2035C>T
NG_059281.1:g.6358G>A
NM_000518.5:c.328G>AMANE SELECT
NP_000509.1:p.Val110Met
LRG_1232t1:c.328G>A
LRG_1232:g.6358G>A
LRG_1232p1:p.Val110Met
NC_000011.9:g.5246944C>T
NM_000518.4:c.328G>A
P68871:p.Val110Met

Protein change:

V110M; VAL109MET

Links:

UniProtKB: P68871#VAR_003032; OMIM: 141900.0252; dbSNP: rs33969677

NCBI 1000 Genomes Browser:

rs33969677

Molecular consequence:

NM_000518.5:c.328G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN SAN DIEGO
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036854	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 2703368, 4808644, 7204093, 7615400

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036854

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

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 N-Baltimore or beta 95(Fg2)Lys----Glu in Portugal.

Anderson Fernandes BL.

Hemoglobin. 1989;13(1):83-7. No abstract available.

PubMed [citation]

PMID:: 2703368

Hemoglobinopathic erythrocytosis due to a new electrophoretically silent variant, hemoglobin San Diego (beta109 (G11)val--met).

Nute PE, Stamatoyannopoulos G, Hermodson MA, Roth D.

J Clin Invest. 1974 Jan;53(1):320-8.

PubMed [citation]

PMID:: 4808644
PMCID:: PMC301467

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036854.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

Description

This hemoglobin is characterized by high oxygen affinity, and erythrocytosis is associated. See Anderson (1974), Nute et al. (1974), and Harkness et al. (1981). Williamson et al. (1995) observed a 30-year-old man of West Indian origin who showed compound heterozygosity for Hb San Diego and Hb S (141900.0243). He had suffered for about 6 months from severe colicky abdominal pain in episodes of several hours duration. He showed erythrocytosis with a hemoglobin value of 18.8 g/dl. The Hb San Diego mutation represented a GTG-to-ATG change. The Hb S mutation was inherited from the mother; Williamson et al. (1995) suggested that the Hb San Diego mutation occurred de novo on the chromosome 11 derived from the father. DNA testing was consistent with the assumed paternity. The Hb San Diego mutation occurred at a CpG dinucleotide. It was concluded that the abdominal pain was due to increased blood viscosity and the symptoms were relieved by venesection.

#	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: Nov 3, 2024

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