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NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) AND EPB42-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 2022
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:
RCV003415697.4

Allele description [Variation Report for NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)]

NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)

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.424G>A (p.Ala142Thr)
Other names:
4.2 Nippon
HGVS:
  • NC_000015.10:g.43215191C>T
  • NG_011505.2:g.15666G>A
  • NM_000119.3:c.424G>A
  • NM_001114134.2:c.334G>AMANE SELECT
  • NP_000110.2:p.Ala142Thr
  • NP_001107606.1:p.Ala112Thr
  • LRG_1171t1:c.424G>A
  • LRG_1171:g.15666G>A
  • LRG_1171p1:p.Ala142Thr
  • NC_000015.9:g.43507389C>T
  • NM_000119.2:c.424G>A
Protein change:
A112T; ALA142THR
Links:
OMIM: 177070.0001; dbSNP: rs104894487
NCBI 1000 Genomes Browser:
rs104894487
Molecular consequence:
  • NM_000119.3:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114134.2:c.334G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
EPB42-related disorder
Synonyms:
EPB42-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004116302PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 30, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116302.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The EPB42 c.424G>A variant is predicted to result in the amino acid substitution p.Ala142Thr. Homozygosity for p.Ala142Thr has been found most commonly in individuals of Japanese descent and was reported to lead to moderately severe hereditary spherocytosis. The p.Ala142Thr is a founder variant in the Japanese population with a carrier frequency of ~3% (Bouhassira et al 1992. PubMed ID: 1558976). This variant is reported in 0.060% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-43507389-C-T). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024