U.S. flag

An official website of the United States government

NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Jan 22, 2015
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:
RCV000152130.12

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)]

NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)

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.265C>G (p.Pro89Ala)
HGVS:
  • NC_000022.11:g.37713220C>G
  • NG_012857.1:g.21233C>G
  • NM_001039141.3:c.265C>GMANE SELECT
  • NP_001034230.1:p.Pro89Ala
  • NC_000022.10:g.38109227C>G
  • NM_001039141.2:c.265C>G
Protein change:
P89A
Links:
dbSNP: rs199646135
NCBI 1000 Genomes Browser:
rs199646135
Molecular consequence:
  • NM_001039141.3:c.265C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
22

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000200822Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Apr 30, 2012) 		germlineclinical testing

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

SCV000230983Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jan 22, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided2222not providednot providednot providedclinical 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, SCV000200822.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided22not providednot providedclinical testing PubMed (1)

Description

Pro89Ala in Exon 05 of TRIOBP: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (54/6636) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided22not provided22not provided

From Eurofins Ntd Llc (ga), SCV000230983.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024