NM_001382548.1(TCERG1):c.192del (p.Pro65fs) AND Colorectal cancer

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001293848.2

Allele description [Variation Report for NM_001382548.1(TCERG1):c.192del (p.Pro65fs)]

NM_001382548.1(TCERG1):c.192del (p.Pro65fs)

Gene:

TCERG1:transcription elongation regulator 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_001382548.1(TCERG1):c.192del (p.Pro65fs)

HGVS:

NC_000005.10:g.146455188del
NM_001040006.2:c.192del
NM_001382548.1:c.192delMANE SELECT
NM_006706.4:c.192del
NP_001035095.1:p.Pro65fs
NP_001369477.1:p.Pro65fs
NP_006697.2:p.Pro65fs
NC_000005.9:g.145834751del
NM_006706.4:c.192delG

Protein change:

P65fs

Links:

dbSNP: rs1762720125

NCBI 1000 Genomes Browser:

rs1762720125

Molecular consequence:

NM_001040006.2:c.192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001382548.1:c.192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006706.4:c.192del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Colorectal cancer
Synonyms:: Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:: MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500

Recent activity

Clear Turn Off Turn On

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
SCV001481779	Genomic Center, National Cancer Institute	no assertion criteria provided	Pathogenic	germline	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001481779

Genomic Center, National Cancer Institute

no assertion criteria provided

Pathogenic

germline

case-control

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	case-control

Details of each submission

From Genomic Center, National Cancer Institute, SCV001481779.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	whole blood and tissue	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2025

ClinVar

Relating variation to medicine