NM_001353694.2(TIAM1):c.610G>A (p.Glu204Lys) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 1, 2024
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:: RCV003443395.6

Allele description [Variation Report for NM_001353694.2(TIAM1):c.610G>A (p.Glu204Lys)]

NM_001353694.2(TIAM1):c.610G>A (p.Glu204Lys)

Gene:

TIAM1:TIAM Rac1 associated GEF 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_001353694.2(TIAM1):c.610G>A (p.Glu204Lys)

HGVS:

NC_000021.9:g.31266363C>T
NM_001353686.2:c.610G>A
NM_001353687.2:c.610G>A
NM_001353688.1:c.610G>A
NM_001353689.1:c.610G>A
NM_001353690.1:c.610G>A
NM_001353691.1:c.610G>A
NM_001353692.1:c.610G>A
NM_001353693.1:c.610G>A
NM_001353694.2:c.610G>AMANE SELECT
NM_003253.3:c.610G>A
NP_001340615.1:p.Glu204Lys
NP_001340616.1:p.Glu204Lys
NP_001340617.1:p.Glu204Lys
NP_001340618.1:p.Glu204Lys
NP_001340619.1:p.Glu204Lys
NP_001340620.1:p.Glu204Lys
NP_001340621.1:p.Glu204Lys
NP_001340622.1:p.Glu204Lys
NP_001340623.1:p.Glu204Lys
NP_003244.2:p.Glu204Lys
NC_000021.8:g.32638679C>T
NM_003253.2:c.610G>A

Protein change:

E204K

Molecular consequence:

NM_001353686.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353687.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353688.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353689.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353690.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353691.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353692.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353693.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353694.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003253.3:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004168344	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 19, 2023)	germline	clinical testing	Citation Link,
SCV005050244	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Jul 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004168344

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 19, 2023)

germline

clinical testing

Citation Link,

SCV005050244

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Uncertain significance
(Jul 1, 2024)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004168344.1

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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 CeGaT Center for Human Genetics Tuebingen, SCV005050244.5

#	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

Last Updated: Oct 20, 2024

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