NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 17, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000658582.24

Allele description [Variation Report for NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp)]

NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp)

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.488C>A (p.Ala163Asp)

Other names:

p.Ala163Asp

HGVS:

NC_000011.10:g.4055628C>A
NG_016277.1:g.204926C>A
NM_001277961.3:c.488C>A
NM_001277962.2:c.488C>A
NM_001382566.1:c.266C>A
NM_001382567.1:c.488C>AMANE SELECT
NM_001382568.1:c.488C>A
NM_001382569.1:c.353C>A
NM_001382570.1:c.386-14398C>A
NM_001382571.1:c.18-3653C>A
NM_001382572.1:c.488C>A
NM_001382573.1:c.266C>A
NM_001382574.1:c.266C>A
NM_001382575.1:c.266C>A
NM_001382576.1:c.266C>A
NM_001382577.1:c.266C>A
NM_001382578.1:c.266C>A
NM_001382579.1:c.266C>A
NM_001382580.1:c.-2C>A
NM_001382581.1:c.-2C>A
NM_003156.4:c.488C>A
NP_001264890.1:p.Ala163Asp
NP_001264891.1:p.Ala163Asp
NP_001369495.1:p.Ala89Asp
NP_001369496.1:p.Ala163Asp
NP_001369497.1:p.Ala163Asp
NP_001369498.1:p.Ala118Asp
NP_001369501.1:p.Ala163Asp
NP_001369502.1:p.Ala89Asp
NP_001369503.1:p.Ala89Asp
NP_001369504.1:p.Ala89Asp
NP_001369505.1:p.Ala89Asp
NP_001369506.1:p.Ala89Asp
NP_001369507.1:p.Ala89Asp
NP_001369508.1:p.Ala89Asp
NP_003147.2:p.Ala163Asp
NP_003147.2:p.Ala163Asp
LRG_164t1:c.488C>A
LRG_164:g.204926C>A
LRG_164p1:p.Ala163Asp
NC_000011.9:g.4076858C>A
NM_003156.3:c.488C>A
NR_168436.1:n.1095C>A
NR_168437.1:n.1095C>A
NR_168438.1:n.1095C>A

Protein change:

A118D

Links:

dbSNP: rs199893056

NCBI 1000 Genomes Browser:

rs199893056

Molecular consequence:

NM_001382580.1:c.-2C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001382581.1:c.-2C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001382570.1:c.386-14398C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001382571.1:c.18-3653C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001277961.3:c.488C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001277962.2:c.488C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382566.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382567.1:c.488C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382568.1:c.488C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382569.1:c.353C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382572.1:c.488C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382573.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382574.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382575.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382576.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382577.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382578.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382579.1:c.266C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003156.4:c.488C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_168436.1:n.1095C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168437.1:n.1095C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_168438.1:n.1095C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV000780359	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Nov 1, 2017)	germline	clinical testing	Citation Link,
SCV004225355	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 17, 2023)	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

SCV000780359

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Nov 1, 2017)

germline

clinical testing

Citation Link,

SCV004225355

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 17, 2023)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	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 CeGaT Center for Human Genetics Tuebingen, SCV000780359.29

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004225355.1

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

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine