NM_000184.3(HBG2):c.85C>A (p.Leu29Met) AND Cyanosis, transient neonatal

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000984481.2

Allele description [Variation Report for NM_000184.3(HBG2):c.85C>A (p.Leu29Met)]

NM_000184.3(HBG2):c.85C>A (p.Leu29Met)

Genes:

LOC106099065:HBG2 recombination region [Gene]
HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000184.3(HBG2):c.85C>A (p.Leu29Met)

HGVS:

NC_000011.10:g.5254644G>T
NG_000007.3:g.42972C>A
NG_042299.1:g.758G>T
NM_000184.3:c.85C>AMANE SELECT
NP_000175.1:p.Leu29Met
NC_000011.9:g.5275874G>T
NM_000184.2:c.85C>A

Protein change:

L29M

Links:

dbSNP: rs1278163109

NCBI 1000 Genomes Browser:

rs1278163109

Molecular consequence:

NM_000184.3:c.85C>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein structure [Variation Ontology: 0060]

Observations:

Condition(s)

Name:: Cyanosis, transient neonatal (TNCY)
Synonyms:: CYANOSIS, TRANSIENT NEONATEL
Identifiers:: MONDO: MONDO:0013511; MedGen: C3151421; Orphanet: 280615; OMIM: 613977

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000999198	Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra	criteria provided, single submitter (Bento et al. (J Pediatr Hematol Oncol. 2013))	Pathogenic (Nov 27, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000999198

Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra

criteria provided, single submitter

(Bento et al. (J Pediatr Hematol Oncol. 2013))

Pathogenic
(Nov 27, 2019)

germline

clinical testing

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.

Bento C, Magalhães Maia T, Carvalhais I, Moita F, Abreu G, Relvas L, Pereira A, Farela Neves J, Ribeiro ML.

J Pediatr Hematol Oncol. 2013 Mar;35(2):e77-80. doi: 10.1097/MPH.0b013e3182667be3.

PubMed [citation]

PMID:: 22935660

Details of each submission

From Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra, SCV000999198.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

Description

The p.L29M variant (Hb F-M Viseu) associates with the methemoglobin (Met-Hb) phenotype. The mutation occurs in the Y-globin chain, hence the methaemoglobinaemia is transitory, resolving with the transition from fetal to adult haemoglobin. It was first reported in neonates with cyanosis.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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