NM_001114134.2(EPB42):c.175del (p.Val59fs) AND Hereditary spherocytosis type 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1995
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:: RCV000033190.26

Allele description [Variation Report for NM_001114134.2(EPB42):c.175del (p.Val59fs)]

NM_001114134.2(EPB42):c.175del (p.Val59fs)

Gene:

EPB42:erythrocyte membrane protein band 4.2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.2

Genomic location:

Preferred name:

NM_001114134.2(EPB42):c.175del (p.Val59fs)

HGVS:

NC_000015.10:g.43216290del
NG_011505.2:g.14568del
NM_000119.3:c.265del
NM_001114134.2:c.175delMANE SELECT
NP_000110.2:p.Val89fs
NP_001107606.1:p.Val59fs
LRG_1171t1:c.265del
LRG_1171:g.14568del
LRG_1171p1:p.Val89fs
NC_000015.9:g.43508488del
NG_011505.1:g.9837del

Protein change:

V59fs

Links:

OMIM: 177070.0002; dbSNP: rs266257354

NCBI 1000 Genomes Browser:

rs266257354

Molecular consequence:

NM_000119.3:c.265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114134.2:c.175del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary spherocytosis type 5
Synonyms:: Spherocytosis type 5; EPB42-Related Spherocytosis
Identifiers:: MONDO: MONDO:0012985; MedGen: C2675192; Orphanet: 822; OMIM: 612690

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057027	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1995)	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

SCV000057027

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1995)

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

A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.

Hayette S, Dhermy D, dos Santos ME, Bozon M, Drenckhahn D, Alloisio N, Texier P, Delaunay J, Morlé L.

Blood. 1995 Jan 1;85(1):250-6.

PubMed [citation]

PMID:: 7803799

Details of each submission

From OMIM, SCV000057027.2

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

Description

Hayette et al. (1995) identified a defect in the EPB42 gene in a 26-year-old Portuguese woman with recessively transmitted hereditary hemolytic anemia (SPH5; 612690). Protein 4.2 was absent from red cell ghosts by Western blotting. Nucleotide sequencing disclosed deletion of a single nucleotide at position 264 (or 265): AAG GTG was changed to AAG TG in codon 88 (or 89) in exon 2. This change, defining allele 4.2 Lisboa, placed in frame the nonsense TGA triplet that normally overlaps codons 136 and 137 (GTG ACC). In effect, codon 89 was changed from GTG (val) to TGA (stop). The mutation was present in homozygous state in the proband and in heterozygous state in the parents and a brother. Apart from anemia, the patient was free of clinical manifestations. Hayette et al. (1995) noted that in this case there were only a few spherocytes and only a limited decrease in the osmotic resistance.

#	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: Feb 7, 2023

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