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NM_001376013.1(EPB41):c.1464-20T>C AND Elliptocytosis 1

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Nov 16, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001001904.14

Allele description [Variation Report for NM_001376013.1(EPB41):c.1464-20T>C]

NM_001376013.1(EPB41):c.1464-20T>C

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.1464-20T>C
HGVS:
  • NC_000001.11:g.29039234T>C
  • NG_013344.1:g.157144T>C
  • NM_001166005.2:c.1464-20T>C
  • NM_001166006.2:c.1464-20T>C
  • NM_001166007.2:c.837-20T>C
  • NM_001376013.1:c.1464-20T>CMANE SELECT
  • NM_001376014.1:c.1464-20T>C
  • NM_001376015.1:c.1464-20T>C
  • NM_001376016.1:c.1464-20T>C
  • NM_001376017.1:c.1464-20T>C
  • NM_001376018.1:c.1464-20T>C
  • NM_001376019.1:c.1464-20T>C
  • NM_001376020.1:c.1464-20T>C
  • NM_001376021.1:c.1464-20T>C
  • NM_001376022.1:c.837-20T>C
  • NM_001376023.1:c.837-20T>C
  • NM_001376024.1:c.837-20T>C
  • NM_001376025.1:c.837-20T>C
  • NM_001376026.1:c.837-20T>C
  • NM_001376027.1:c.837-20T>C
  • NM_001376028.1:c.837-20T>C
  • NM_004437.4:c.837-20T>C
  • NM_203342.3:c.837-20T>C
  • NM_203343.3:c.1359-20T>C
  • NC_000001.10:g.29365746T>C
Links:
dbSNP: rs139715164
NCBI 1000 Genomes Browser:
rs139715164
Molecular consequence:
  • NM_001166005.2:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001166006.2:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001166007.2:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376013.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376014.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376015.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376016.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376017.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376018.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376019.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376020.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376021.1:c.1464-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376022.1:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376023.1:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376024.1:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376025.1:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376026.1:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376027.1:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376028.1:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004437.4:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_203342.3:c.837-20T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_203343.3:c.1359-20T>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001159656ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Nov 16, 2023) 		germlineclinical testing

Citation Link,

SCV002807262Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Oct 12, 2021) 		unknownclinical 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
not providedunknownunknownnot 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159656.6

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

From Fulgent Genetics, Fulgent Genetics, SCV002807262.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024