NM_000519.4(HBD):c.425T>C (p.Leu142Pro) AND HEMOGLOBIN A(2) PELENDRI

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:: RCV000016212.2

Allele description [Variation Report for NM_000519.4(HBD):c.425T>C (p.Leu142Pro)]

NM_000519.4(HBD):c.425T>C (p.Leu142Pro)

Gene:

HBD:hemoglobin subunit delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000519.4(HBD):c.425T>C (p.Leu142Pro)

Other names:

L141P; Hb A2-Pelendri

HGVS:

NC_000011.10:g.5232983A>G
NG_000007.3:g.64633T>C
NG_063112.2:g.15675T>C
NM_000519.4:c.425T>CMANE SELECT
NP_000510.1:p.Leu142Pro
LRG_1335t1:c.425T>C
LRG_1335:g.15675T>C
LRG_1335p1:p.Leu142Pro
NC_000011.9:g.5254213A>G
NM_000519.3:c.425T>C
P02042:p.Leu142Pro

Protein change:

L142P; LEU141PRO

Links:

HBVAR: 680; UniProtKB: P02042#VAR_003121; OMIM: 142000.0031; dbSNP: rs33956485

NCBI 1000 Genomes Browser:

rs33956485

Molecular consequence:

NM_000519.4:c.425T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN A(2) PELENDRI
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036480	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

SCV000036480

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

Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

Trifillis P, Ioannou P, Schwartz E, Surrey S.

Blood. 1991 Dec 15;78(12):3298-305.

PubMed [citation]

PMID:: 1742490

Details of each submission

From OMIM, SCV000036480.3

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

Description

In a Greek Cypriot family suspected of having delta-thalassemia, Trifillis et al. (1991) found a T-to-C transition at codon 141 converting leucine to proline.

#	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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