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NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) AND Elliptocytosis 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1997
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:
RCV000013692.20

Allele description [Variation Report for NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro)]

NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro)

Gene:
SPTB:spectrin beta, erythrocytic [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.3
Genomic location:
Preferred name:
NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro)
Other names:
spectrin Cosenza
HGVS:
  • NC_000014.9:g.64767691C>G
  • NG_016202.2:g.117202G>C
  • NM_001024858.4:c.6191G>C
  • NM_001355436.2:c.6191G>CMANE SELECT
  • NM_001355437.2:c.6191G>C
  • NP_001020029.1:p.Arg2064Pro
  • NP_001342365.1:p.Arg2064Pro
  • NP_001342366.1:p.Arg2064Pro
  • LRG_1130t1:c.6191G>C
  • LRG_1130t2:c.6191G>C
  • LRG_1130:g.117202G>C
  • LRG_1130p1:p.Arg2064Pro
  • LRG_1130p2:p.Arg2064Pro
  • NC_000014.8:g.65234409C>G
Protein change:
R2064P; ARG2064PRO
Links:
OMIM: 182870.0012; dbSNP: rs121918650
NCBI 1000 Genomes Browser:
rs121918650
Molecular consequence:
  • NM_001024858.4:c.6191G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355436.2:c.6191G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355437.2:c.6191G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Elliptocytosis 3 (EL3)
Identifiers:
MONDO: MONDO:0054780; MedGen: C1866810; OMIM: 617948

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033939OMIM
no assertion criteria provided
Pathogenic
(May 1, 1997) 		germlineliterature only

Qualtieri, A., Pasqua, A., Bisconte, M. G., Le Pera, M., Brancati, C. Spectrin Cosenza: a novel beta chain variant associated with Sp-alpha(I/74) hereditary elliptocytosis. Brit. J. Haemat. 97: 273-278, 1997.

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000033939.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In a Calabrian family in Southern Italy, Qualtieri et al. (1997) found that hereditary elliptocytosis (EL3; 617948) in the heterozygous state was asymptomatic and associated with a defect in spectrin dimer self association and an increase of the alpha(I/74) kD fragment from the alpha-chain after partial tryptic digestion of spectrin. By SSCP followed by DNA sequencing, they identified a C-to-G substitution at position 6284 of the SPTB gene. The corresponding substitution at the protein level, referred to as spectrin Cosenza, was arg2064 to pro of the beta-spectrin chain.

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

Last Updated: Mar 26, 2023