NM_001382567.1(STIM1):c.1296G>T (p.Gln432His) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 26, 2022
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:: RCV003774757.1

Allele description

NM_001382567.1(STIM1):c.1296G>T (p.Gln432His)

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.1296G>T (p.Gln432His)

HGVS:

NC_000011.10:g.4083320G>T
NG_016277.1:g.232618G>T
NM_001277961.3:c.1296G>T
NM_001277962.2:c.1296G>T
NM_001382566.1:c.1074G>T
NM_001382567.1:c.1296G>TMANE SELECT
NM_001382568.1:c.1317G>T
NM_001382569.1:c.1161G>T
NM_001382570.1:c.1068G>T
NM_001382571.1:c.816G>T
NM_001382573.1:c.1074G>T
NM_001382575.1:c.1074G>T
NM_001382576.1:c.1074G>T
NM_001382577.1:c.1074G>T
NM_001382578.1:c.1074G>T
NM_001382579.1:c.1074G>T
NM_001382580.1:c.807G>T
NM_001382581.1:c.807G>T
NM_003156.4:c.1296G>T
NP_001264890.1:p.Gln432His
NP_001264891.1:p.Gln432His
NP_001369495.1:p.Gln358His
NP_001369496.1:p.Gln432His
NP_001369497.1:p.Gln439His
NP_001369498.1:p.Gln387His
NP_001369499.1:p.Gln356His
NP_001369500.1:p.Gln272His
NP_001369502.1:p.Gln358His
NP_001369504.1:p.Gln358His
NP_001369505.1:p.Gln358His
NP_001369506.1:p.Gln358His
NP_001369507.1:p.Gln358His
NP_001369508.1:p.Gln358His
NP_001369509.1:p.Gln269His
NP_001369510.1:p.Gln269His
NP_003147.2:p.Gln432His
LRG_164:g.232618G>T
NC_000011.9:g.4104550G>T
NM_001277961.1:c.1296G>T
NR_168437.1:n.1725G>T
NR_168438.1:n.1547G>T

Protein change:

Q269H

Links:

dbSNP: rs2133226066

NCBI 1000 Genomes Browser:

rs2133226066

Molecular consequence:

NM_001277961.3:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001277962.2:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382566.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382567.1:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382568.1:c.1317G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382569.1:c.1161G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382570.1:c.1068G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382571.1:c.816G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382573.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382575.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382576.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382577.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382578.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382579.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382580.1:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001382581.1:c.807G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003156.4:c.1296G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_168437.1:n.1725G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168438.1:n.1547G>T - 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

Name:: Combined immunodeficiency due to STIM1 deficiency
Synonyms:: Immune dysfunction with T-cell inactivation due to calcium entry defect 2; STIM1 DEFICIENCY; IMMUNODEFICIENCY 10
Identifiers:: MONDO: MONDO:0013008; MedGen: C2748557; Orphanet: 169090; Orphanet: 317430; OMIM: 612783

Name:: Myopathy with tubular aggregates (TAM)
Synonyms:: Tubular Aggregate Myopathy
Identifiers:: MONDO: MONDO:0008051; MedGen: C0410207; OMIM: PS160565

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004583268	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 26, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004583268

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 26, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004583268.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on STIM1 protein function. ClinVar contains an entry for this variant (Variation ID: 1691249). This variant has not been reported in the literature in individuals affected with STIM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 432 of the STIM1 protein (p.Gln432His).

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine