NM_000518.5(HBB):c.396G>C (p.Gln132His) AND HEMOGLOBIN SILVER SPRINGS

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:: RCV000016830.3

Allele description [Variation Report for NM_000518.5(HBB):c.396G>C (p.Gln132His)]

NM_000518.5(HBB):c.396G>C (p.Gln132His)

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.396G>C (p.Gln132His)

Other names:

Q131H

HGVS:

NC_000011.10:g.5225646C>G
NG_000007.3:g.71970G>C
NG_046672.1:g.3581C>G
NG_053049.1:g.1967C>G
NG_059281.1:g.6426G>C
NM_000518.5:c.396G>CMANE SELECT
NP_000509.1:p.Gln132His
LRG_1232t1:c.396G>C
LRG_1232:g.6426G>C
LRG_1232p1:p.Gln132His
NC_000011.9:g.5246876C>G

Protein change:

Q132H; GLN131HIS

Links:

OMIM: 141900.0476; dbSNP: rs34188626

NCBI 1000 Genomes Browser:

rs34188626

Molecular consequence:

NM_000518.5:c.396G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN SILVER SPRINGS
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037100	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

SCV000037100

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

Hb Silver Springs [beta 131(H9)Gln-->His], a new hemoglobin variant found in six African-Americans.

Hoyer JD, Wick MJ, Thibodeau SN, Kechteiger KS, Cook JD, Fairbanks VF.

Hemoglobin. 1998 Jan;22(1):37-44.

PubMed [citation]

PMID:: 9494046

Details of each submission

From OMIM, SCV000037100.4

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

Description

Hoyer et al. (1998) described a new hemoglobin variant called Hb Silver Springs which resulted from a CAG (gln)-to-CAC (his) change at codon 131 of the beta chain. It was detected only by cationic exchange high performance liquid chromatography. This was the fifth reported substitution at codon 131. The variant did not appear to have any clinical or hematologic manifestations. It was found in 6 African Americans from 4 presumably unrelated families.

#	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: Apr 23, 2022

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