NM_004239.4(TRIP11):c.492T>C (p.Phe164=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 29, 2019
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:: RCV001704517.1

Allele description [Variation Report for NM_004239.4(TRIP11):c.492T>C (p.Phe164=)]

NM_004239.4(TRIP11):c.492T>C (p.Phe164=)

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.492T>C (p.Phe164=)

HGVS:

NC_000014.9:g.92021652A>G
NG_016970.1:g.23408T>C
NM_001321851.1:c.489T>C
NM_004239.4:c.492T>CMANE SELECT
NP_001308780.1:p.Phe163=
NP_004230.2:p.Phe164=
NC_000014.8:g.92487996A>G
NM_004239.3:c.492T>C

Links:

dbSNP: rs367632896

NCBI 1000 Genomes Browser:

rs367632896

Molecular consequence:

NM_001321851.1:c.489T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004239.4:c.492T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/BRA/RJ-...
Severe acute respiratory syndrome coronavirus 2 isolate SARS-CoV-2/human/BRA/RJ-DCVN1/2020, complete genome
gi|1883806255|gb|MT827202.1|

Nucleotide
Type 1 diabetes: Learn More – Types of insulin - InformedHealth.org
Type 1 diabetes: Learn More – Types of insulin - InformedHealth.org
Terminally Ill
Terminally Ill
Persons with an incurable or irreversible illness at the end stage that will result in death within a short time. (From O'Leary et al., Lexikon: Dictionary of Health Care Term...<br/>Year introduced: 1997

MeSH
PAPPA-AS1 PAPPA antisense RNA 1 [Homo sapiens]
PAPPA-AS1 PAPPA antisense RNA 1 [Homo sapiens]
Gene ID:493913

Gene
PHTF1 putative homeodomain transcription factor 1 [Bos taurus]
PHTF1 putative homeodomain transcription factor 1 [Bos taurus]
Gene ID:536504

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000532963	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 29, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000532963

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Nov 29, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000532963.4

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine