NM_000518.5(HBB):c.5T>C (p.Val2Ala) AND HEMOGLOBIN RALEIGH

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:: RCV000016563.14

Allele description [Variation Report for NM_000518.5(HBB):c.5T>C (p.Val2Ala)]

NM_000518.5(HBB):c.5T>C (p.Val2Ala)

Genes:

LOC106099062:HBB recombination 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.5T>C (p.Val2Ala)

Other names:

V1A

HGVS:

NC_000011.10:g.5227017A>G
NG_000007.3:g.70599T>C
NG_042296.1:g.548A>G
NG_046672.1:g.4952A>G
NG_059281.1:g.5055T>C
NM_000518.5:c.5T>CMANE SELECT
NP_000509.1:p.Val2Ala
LRG_1232t1:c.5T>C
LRG_1232:g.5055T>C
LRG_1232p1:p.Val2Ala
NC_000011.9:g.5248247A>G
NM_000518.4:c.5T>C
P68871:p.Val2Ala

Protein change:

V2A; VAL1ALA

Links:

UniProtKB: P68871#VAR_002856; OMIM: 141900.0233; dbSNP: rs33949930

NCBI 1000 Genomes Browser:

rs33949930

Molecular consequence:

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

Condition(s)

Name:: HEMOGLOBIN RALEIGH
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036831	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

SCV000036831

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 Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.

Moo-Penn WF, Hine TK, Johnson MH, Jue DL, Holland S, George S, Pierce AM, Michalski LA, McDonald MJ.

Hemoglobin. 1992;16(1-2):35-44.

PubMed [citation]

PMID:: 1634360

Details of each submission

From OMIM, SCV000036831.6

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

Description

Substitution of acetylalanine for valine at beta 1. See Moo-Penn et al. (1977).

This variant was numbered based on the first amino acid of the mature protein. In the gene-based system of counting, this variant is VAL2ALA.

#	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 24, 2024

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