NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly) AND Stormorken syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 5, 2022
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:: RCV002287513.1

Allele description [Variation Report for NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)]

NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)

Gene:

STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)

HGVS:

NC_000011.10:g.3967674A>G
NG_016277.1:g.116972A>G
NM_001277961.3:c.262A>G
NM_001277962.2:c.262A>G
NM_001382566.1:c.40A>G
NM_001382567.1:c.262A>GMANE SELECT
NM_001382568.1:c.262A>G
NM_001382569.1:c.136-56199A>G
NM_001382570.1:c.262A>G
NM_001382571.1:c.-98-56199A>G
NM_001382572.1:c.262A>G
NM_001382573.1:c.40A>G
NM_001382574.1:c.40A>G
NM_001382575.1:c.40A>G
NM_001382576.1:c.40A>G
NM_001382577.1:c.40A>G
NM_001382578.1:c.40A>G
NM_001382579.1:c.40A>G
NM_001382580.1:c.-219-56199A>G
NM_001382581.1:c.-219-56199A>G
NM_003156.4:c.262A>G
NP_001264890.1:p.Ser88Gly
NP_001264891.1:p.Ser88Gly
NP_001369495.1:p.Ser14Gly
NP_001369496.1:p.Ser88Gly
NP_001369497.1:p.Ser88Gly
NP_001369499.1:p.Ser88Gly
NP_001369501.1:p.Ser88Gly
NP_001369502.1:p.Ser14Gly
NP_001369503.1:p.Ser14Gly
NP_001369504.1:p.Ser14Gly
NP_001369505.1:p.Ser14Gly
NP_001369506.1:p.Ser14Gly
NP_001369507.1:p.Ser14Gly
NP_001369508.1:p.Ser14Gly
NP_003147.2:p.Ser88Gly
LRG_164:g.116972A>G
NC_000011.9:g.3988904A>G
NM_003156.3:c.262A>G
NR_168436.1:n.869A>G
NR_168437.1:n.869A>G
NR_168438.1:n.869A>G

Protein change:

S14G

Links:

dbSNP: rs2135736648

NCBI 1000 Genomes Browser:

rs2135736648

Molecular consequence:

NM_001382569.1:c.136-56199A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001382571.1:c.-98-56199A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001382580.1:c.-219-56199A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001382581.1:c.-219-56199A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001277961.3:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001277962.2:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382566.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382567.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382568.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382570.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382572.1:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382573.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382574.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382575.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382576.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382577.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382578.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001382579.1:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003156.4:c.262A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_168436.1:n.869A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168437.1:n.869A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168438.1:n.869A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Stormorken syndrome (STRMK)
Synonyms:: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
Identifiers:: MONDO: MONDO:0008497; MedGen: C1861451; Orphanet: 3204; OMIM: 185070

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002569143	Laboratory of Molecular Genetics, Hospital Puerta de Hierro-Majadahonda	no assertion criteria provided	Pathogenic (Sep 5, 2022)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002569143

Laboratory of Molecular Genetics, Hospital Puerta de Hierro-Majadahonda

no assertion criteria provided

Pathogenic
(Sep 5, 2022)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Laboratory of Molecular Genetics, Hospital Puerta de Hierro-Majadahonda, SCV002569143.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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