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NM_001376013.1(EPB41):c.640G>A (p.Val214Ile) AND Elliptocytosis 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 22, 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:
RCV001001476.15

Allele description [Variation Report for NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)]

NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)

Gene:
EPB41:erythrocyte membrane protein band 4.1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p35.3
Genomic location:
Preferred name:
NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)
HGVS:
  • NC_000001.11:g.28993501G>A
  • NG_013344.1:g.111411G>A
  • NM_001166005.2:c.640G>A
  • NM_001166006.2:c.640G>A
  • NM_001166007.2:c.13G>A
  • NM_001376013.1:c.640G>AMANE SELECT
  • NM_001376014.1:c.640G>A
  • NM_001376015.1:c.640G>A
  • NM_001376016.1:c.640G>A
  • NM_001376017.1:c.640G>A
  • NM_001376018.1:c.640G>A
  • NM_001376019.1:c.640G>A
  • NM_001376020.1:c.640G>A
  • NM_001376021.1:c.640G>A
  • NM_001376022.1:c.13G>A
  • NM_001376023.1:c.13G>A
  • NM_001376024.1:c.13G>A
  • NM_001376025.1:c.13G>A
  • NM_001376026.1:c.13G>A
  • NM_001376027.1:c.13G>A
  • NM_001376028.1:c.13G>A
  • NM_004437.4:c.13G>A
  • NM_203342.3:c.13G>A
  • NM_203343.3:c.640G>A
  • NP_001159477.1:p.Val214Ile
  • NP_001159478.1:p.Val214Ile
  • NP_001159479.1:p.Val5Ile
  • NP_001362942.1:p.Val214Ile
  • NP_001362943.1:p.Val214Ile
  • NP_001362944.1:p.Val214Ile
  • NP_001362945.1:p.Val214Ile
  • NP_001362946.1:p.Val214Ile
  • NP_001362947.1:p.Val214Ile
  • NP_001362948.1:p.Val214Ile
  • NP_001362949.1:p.Val214Ile
  • NP_001362950.1:p.Val214Ile
  • NP_001362951.1:p.Val5Ile
  • NP_001362952.1:p.Val5Ile
  • NP_001362953.1:p.Val5Ile
  • NP_001362954.1:p.Val5Ile
  • NP_001362955.1:p.Val5Ile
  • NP_001362956.1:p.Val5Ile
  • NP_001362957.1:p.Val5Ile
  • NP_004428.1:p.Val5Ile
  • NP_976217.1:p.Val5Ile
  • NP_976218.1:p.Val214Ile
  • NC_000001.10:g.29320013G>A
Protein change:
V214I
Links:
dbSNP: rs111642750
NCBI 1000 Genomes Browser:
rs111642750
Molecular consequence:
  • NM_001166005.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166006.2:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166007.2:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376013.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376014.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376015.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376016.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376017.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376018.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376019.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376020.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376021.1:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376022.1:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376023.1:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376024.1:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376025.1:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376026.1:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376027.1:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376028.1:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004437.4:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203342.3:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203343.3:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Elliptocytosis 1 (EL1)
Synonyms:
4.1- TRAIT; 4.1-MINUS TRAIT; ELLIPTOCYTOSIS, RHESUS-LINKED TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012731; MedGen: C2678497; Orphanet: 288; OMIM: 611804

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158744ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Nov 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158744.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024