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NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 14, 2015
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:
RCV000218540.4

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)]

NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)

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.409A>G (p.Ser137Gly)
HGVS:
  • NC_000022.11:g.37713364A>G
  • NG_012857.1:g.21377A>G
  • NM_001039141.3:c.409A>GMANE SELECT
  • NP_001034230.1:p.Ser137Gly
  • NC_000022.10:g.38109371A>G
  • NM_001039141.2:c.409A>G
Protein change:
S137G
Links:
dbSNP: rs201008196
NCBI 1000 Genomes Browser:
rs201008196
Molecular consequence:
  • NM_001039141.3:c.409A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000270940Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(May 14, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000270940.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Ser137Gly in exon 5 of TRIOBP: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, seven mammals (naked mole-rat, guinea pig, chinchilla, brush-tailed rat, horse, shrew, and cape elephant shrew) have a glycine (Gly) at this position des pite high nearby amino acid sequence conservation. In addition, computational p rediction tools do not suggest a high likelihood of impact to the protein. It ha s been identified in 1/66594 European chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs201008196).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024