NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) AND Hereditary spherocytosis type 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 27, 2018
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:: RCV000655909.4

Allele description [Variation Report for NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)]

NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)

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.2863C>T (p.Arg955Ter)

HGVS:

NC_000014.9:g.64787102G>A
NG_016202.2:g.97791C>T
NM_001024858.4:c.2863C>T
NM_001355436.2:c.2863C>TMANE SELECT
NM_001355437.2:c.2863C>T
NP_001020029.1:p.Arg955Ter
NP_001020029.1:p.Arg955Ter
NP_001342365.1:p.Arg955Ter
NP_001342366.1:p.Arg955Ter
LRG_1130t1:c.2863C>T
LRG_1130t2:c.2863C>T
LRG_1130:g.97791C>T
LRG_1130p1:p.Arg955Ter
LRG_1130p2:p.Arg955Ter
NC_000014.8:g.65253820G>A
NM_001024858.3:c.2863C>T
NM_001355436.2:c.2863C>T

Protein change:

R955*

Links:

dbSNP: rs1555369657

NCBI 1000 Genomes Browser:

rs1555369657

Molecular consequence:

NM_001024858.4:c.2863C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001355436.2:c.2863C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001355437.2:c.2863C>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000777858	Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 27, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001760338	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Likely pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000777858

Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 27, 2018)

germline

clinical testing

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

SCV001760338

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Likely pathogenic

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV000777858.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genomics England Pilot Project, Genomics England, SCV001760338.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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