NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) AND Hereditary spherocytosis type 5

Germline classification:: Likely pathogenic (3 submissions)
Last evaluated:: Apr 27, 2023
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:: RCV000014140.30

Allele description [Variation Report for NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)]

NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.2

Genomic location:

Preferred name:

NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)

Other names:

4.2 Tozeur

HGVS:

NC_000015.10:g.43208769C>T
NG_011505.2:g.22088G>A
NM_000119.3:c.929G>A
NM_001114134.2:c.839G>AMANE SELECT
NP_000110.2:p.Arg310Gln
NP_000110.2:p.Arg310Gln
NP_001107606.1:p.Arg280Gln
LRG_1171t1:c.929G>A
LRG_1171:g.22088G>A
LRG_1171p1:p.Arg310Gln
NC_000015.9:g.43500967C>T
NM_000119.2:c.929G>A

Protein change:

R280Q; ARG310GLN

Links:

OMIM: 177070.0003; dbSNP: rs121917734

NCBI 1000 Genomes Browser:

rs121917734

Molecular consequence:

NM_000119.3:c.929G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114134.2:c.839G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034388	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1995)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7772513, 2386772
SCV000153764	GeneReviews	no classification provided	not provided	germline	literature only
SCV004238175	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 27, 2023)	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

SCV000034388

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1995)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000153764

GeneReviews

no classification provided

not provided

germline

literature only

SCV004238175

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 27, 2023)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.

Hayette S, Morle L, Bozon M, Ghanem A, Risinger M, Korsgren C, Tanner MJ, Fattoum S, Cohen CM, Delaunay J.

Br J Haematol. 1995 Apr;89(4):762-70.

PubMed [citation]

PMID:: 7772513

A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.

Ghanem A, Pothier B, Marechal J, Ducluzeau MT, Morle L, Alloisio N, Feo C, Ben Abdeladhim A, Fattoum S, Delaunay J.

Br J Haematol. 1990 Jul;75(3):414-20.

PubMed [citation]

PMID:: 2386772

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000034388.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Using high-sensitivity Western blot analysis, Hayette et al. (1995) found that the Tunisian sibs with autosomal recessive hemolytic anemia (SPH5; 612690) originally reported by Ghanem et al. (1990) had trace amounts of the EPB42 protein. They found that the sibs were homozygous for a G-to-A transition in exon 7 of the EPB42 gene, resulting in an arg310-to-gln (R310Q) substitution. The parents were heterozygous for the mutation, which was absent in 48 control chromosomes of Tunisian individuals.

#	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

From GeneReviews, SCV000153764.3

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

#	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		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV004238175.1

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

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

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine