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NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 21, 2016
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:
RCV000152148.6

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)]

NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)

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.6362C>T (p.Ser2121Leu)
HGVS:
  • NC_000022.11:g.37765707C>T
  • NG_012857.1:g.73720C>T
  • NM_001039141.3:c.6362C>TMANE SELECT
  • NM_007032.5:c.1223C>T
  • NP_001034230.1:p.Ser2121Leu
  • NP_008963.3:p.Ser408Leu
  • NC_000022.10:g.38161714C>T
  • NM_001039141.2:c.6362C>T
Protein change:
S2121L
Links:
dbSNP: rs201724032
NCBI 1000 Genomes Browser:
rs201724032
Molecular consequence:
  • NM_001039141.3:c.6362C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007032.5:c.1223C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000200847Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(May 21, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene.

Fardaei M, Sarrafzadeh S, Ghafouri-Fard S, Miryounesi M.

Int J Mol Cell Med. 2015 Fall;4(4):245-7.

PubMed [citation]
PMID:
27014650
PMCID:
PMC4769603

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, SCV000200847.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)

Description

p.Ser2121Leu in exon 18 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.6% (46/7960) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs201724032).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Oct 20, 2024