NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) AND Congenital hemolytic anemia

Clinical significance:Likely pathogenic (Last evaluated: Feb 27, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000655920.1

Allele description [Variation Report for NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)]

NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)

Gene:
SPTA1:spectrin alpha, erythrocytic 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)
HGVS:
  • NC_000001.11:g.158615332T>G
  • NG_011474.1:g.76385A>C
  • NM_003126.4:c.6672A>CMANE SELECT
  • NP_003117.2:p.Glu2224Asp
  • LRG_1131t1:c.6672A>C
  • LRG_1131:g.76385A>C
  • NC_000001.10:g.158585122T>G
  • NM_003126.2:c.6672A>C
  • NM_003126.3:c.6672A>C
Protein change:
E2224D
Links:
dbSNP: rs142775522
NCBI 1000 Genomes Browser:
rs142775522
Molecular consequence:
  • NM_003126.4:c.6672A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital hemolytic anemia
Synonyms:
Congenital haemolytic anemia; Neonatal hemolytic anemia
Identifiers:
MedGen: C0002881; Human Phenotype Ontology: HP:0004804

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000777869Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Pariscriteria provided, single submitter
Likely pathogenic
(Feb 27, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris, SCV000777869.1

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

Last Updated: Jun 23, 2021

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