NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jul 3, 2017
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:: RCV000154655.8

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)]

NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)

Genes:

LOC126863145:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38150829-38152028 [Gene]
TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)

HGVS:

NC_000022.11:g.37755560C>T
NG_012857.1:g.63573C>T
NM_001039141.3:c.5588C>TMANE SELECT
NM_007032.5:c.449C>T
NM_138632.2:c.449C>T
NP_001034230.1:p.Ala1863Val
NP_008963.3:p.Ala150Val
NP_619538.2:p.Ala150Val
NC_000022.10:g.38151567C>T
NM_001039141.2:c.5588C>T

Protein change:

A150V

Links:

dbSNP: rs140528529

NCBI 1000 Genomes Browser:

rs140528529

Molecular consequence:

NM_001039141.3:c.5588C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007032.5:c.449C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_138632.2:c.449C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000204331	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (May 19, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000855390	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Jul 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204331

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(May 19, 2015)

germline

clinical testing

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

SCV000855390

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Jul 3, 2017)

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	not provided	7	7	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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204331.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	not provided	not provided	clinical testing	PubMed (1)

Description

p.Ala1863Val in exon 15 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.33% (220/66206) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs140528529).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		7	not provided	7	not provided

From Eurofins Ntd Llc (ga), SCV000855390.1

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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