NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 28, 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:: RCV001811664.16

Allele description [Variation Report for NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)]

NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)

Gene:

TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.12

Genomic location:

Preferred name:

NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)

HGVS:

NC_000014.9:g.91972779A>G
NG_016970.1:g.72281T>C
NM_001321851.1:c.5654T>C
NM_004239.4:c.5657T>CMANE SELECT
NP_001308780.1:p.Met1885Thr
NP_004230.2:p.Met1886Thr
NC_000014.8:g.92439123A>G
NM_004239.3:c.5657T>C

Protein change:

M1885T

Links:

dbSNP: rs143392370

Molecular consequence:

NM_001321851.1:c.5654T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004239.4:c.5657T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001477754	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Uncertain significance (Mar 4, 2022)	germline	clinical testing	Citation Link,
SCV005440896	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 28, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001477754

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Uncertain significance
(Mar 4, 2022)

germline

clinical testing

Citation Link,

SCV005440896

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 28, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001477754.3

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

Description

The TRIP11 c.5657T>C; p.Met1886Thr variant (rs143392370), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found in the non-Finnish European population with an overall allele frequency of 0.04% (51/128730 alleles) in the Genome Aggregation Database. The methionine at codon 1886 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Met1886Thr variant is uncertain at this time.

#	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		not provided	not provided	not provided	not provided

From GeneDx, SCV005440896.1

#	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 indicates that this missense variant does not alter 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

Last Updated: Apr 12, 2026

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