NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jan 1, 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:: RCV000514702.15

Allele description [Variation Report for NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)]

NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)

Gene:

TCOF1:treacle ribosome biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu)

HGVS:

NC_000005.10:g.150374762C>T
NG_011341.1:g.22124C>T
NM_000356.4:c.998C>T
NM_001008657.3:c.1229C>T
NM_001135243.2:c.1229C>T
NM_001135244.2:c.1229C>T
NM_001135245.2:c.998C>T
NM_001195141.2:c.1229C>T
NM_001371623.1:c.1229C>TMANE SELECT
NP_000347.2:p.Ser333Leu
NP_001008657.1:p.Ser410Leu
NP_001128715.1:p.Ser410Leu
NP_001128715.1:p.Ser410Leu
NP_001128716.1:p.Ser410Leu
NP_001128717.1:p.Ser333Leu
NP_001182070.1:p.Ser410Leu
NP_001358552.1:p.Ser410Leu
NC_000005.9:g.149754325C>T
NM_001135243.1:c.1229C>T

Protein change:

S333L

Links:

dbSNP: rs114326915

NCBI 1000 Genomes Browser:

rs114326915

Molecular consequence:

NM_000356.4:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001008657.3:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001135243.2:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001135244.2:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001135245.2:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195141.2:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001371623.1:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000609736	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (May 4, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001950564	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jan 17, 2019)	germline	clinical testing	Citation Link,
SCV004699138	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jan 1, 2024)	germline	clinical testing	Citation Link,
SCV005221367	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, not provided

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000609736.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.004065	not provided	not provided

From GeneDx, SCV001950564.2

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

Description

This variant is associated with the following publications: (PMID: 28065470)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004699138.8

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

Description

TCOF1: BP4, BS1, BS2

#	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		1	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005221367.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	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: Oct 20, 2024

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