NM_000517.6(HBA2):c.167T>C (p.Val56Ala) AND HEMOGLOBIN GERLAND

Germline classification:: other (1 submission)
Last evaluated:: Mar 28, 2013
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:: RCV000016956.1

Allele description [Variation Report for NM_000517.6(HBA2):c.167T>C (p.Val56Ala)]

NM_000517.6(HBA2):c.167T>C (p.Val56Ala)

Genes:

LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000517.6(HBA2):c.167T>C (p.Val56Ala)

Other names:

V55A

HGVS:

NC_000016.10:g.173196T>C
NG_000006.1:g.34059T>C
NG_046165.1:g.2935T>C
NG_059186.1:g.1546T>C
NG_059271.1:g.5350T>C
NM_000517.6:c.167T>CMANE SELECT
NP_000508.1:p.Val56Ala
LRG_1240t1:c.167T>C
LRG_1225:g.1546T>C
LRG_1240:g.5350T>C
LRG_1240p1:p.Val56Ala
NC_000016.9:g.223195T>C

Protein change:

V56A; VAL55ALA

Links:

OMIM: 141850.0046; dbSNP: rs63749934

NCBI 1000 Genomes Browser:

rs63749934

Molecular consequence:

NM_000517.6:c.167T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN GERLAND
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037228	OMIM	no assertion criteria provided	other (Mar 28, 2013)	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

SCV000037228

OMIM

no assertion criteria provided

other
(Mar 28, 2013)

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 Gerland [alpha55(E4)Val-->Ala (alpha2)]: a new neutral alpha chain variant involving the alpha2 gene.

Lacan P, Aubry M, Couprie N, Francina A.

Hemoglobin. 2001 Nov;25(4):417-20. No abstract available.

PubMed [citation]

PMID:: 11791875

Details of each submission

From OMIM, SCV000037228.1

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

Description

In studies of a 6-year-old boy with mild microcytic anemia, Lacan et al. (2001) found a neutral alpha-chain variant involving the HBA2 gene and designated it Hb Gerland. A GTT-to-GCT mutation of codon 55 was predicted to result in a substitution of alanine for valine.

#	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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