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NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) AND Hereditary spherocytosis type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 2019
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:
RCV001534602.1

Allele description [Variation Report for NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)]

NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)

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.1024C>T (p.Gln342Ter)
HGVS:
  • NC_000014.9:g.64799787G>A
  • NG_016202.2:g.85106C>T
  • NM_001024858.4:c.1024C>T
  • NM_001355436.2:c.1024C>TMANE SELECT
  • NM_001355437.2:c.1024C>T
  • NP_001020029.1:p.Gln342Ter
  • NP_001342365.1:p.Gln342Ter
  • NP_001342366.1:p.Gln342Ter
  • LRG_1130t1:c.1024C>T
  • LRG_1130t2:c.1024C>T
  • LRG_1130:g.85106C>T
  • LRG_1130p1:p.Gln342Ter
  • LRG_1130p2:p.Gln342Ter
  • NC_000014.8:g.65266505G>A
  • NM_001355436.1:c.1024C>T
Protein change:
Q342*
Links:
dbSNP: rs2139621075
NCBI 1000 Genomes Browser:
rs2139621075
Molecular consequence:
  • NM_001024858.4:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001355436.2:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001355437.2:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary spherocytosis type 2
Synonyms:
SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT; Spherocytosis type 2
Identifiers:
MONDO: MONDO:0000913; MedGen: C2674219; Orphanet: 822; OMIM: 616649

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001469073UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 25, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, SCV001469073.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023