NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter) AND TCF12-related craniosynostosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 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:: RCV001196018.2

Allele description [Variation Report for NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter)]

NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter)

Gene:

TCF12:transcription factor 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.3

Genomic location:

Preferred name:

NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter)

HGVS:

NC_000015.10:g.57262167C>A
NG_033851.2:g.349078C>A
NM_001306219.3:c.1031C>A
NM_001306220.3:c.761C>A
NM_001322151.2:c.1541C>A
NM_001322152.2:c.1541C>A
NM_001322154.2:c.884C>A
NM_001322156.2:c.1367C>A
NM_001322157.3:c.1469C>A
NM_001322158.2:c.1295C>A
NM_001322159.3:c.1541C>A
NM_001322161.2:c.1538C>A
NM_001322162.2:c.1541C>A
NM_001322164.2:c.1505C>A
NM_001322165.2:c.1469C>A
NM_003205.4:c.1469C>A
NM_207036.2:c.1541C>A
NM_207037.2:c.1541C>AMANE SELECT
NM_207038.2:c.1469C>A
NM_207040.2:c.959C>A
NP_001293148.1:p.Ser344Ter
NP_001293149.1:p.Ser254Ter
NP_001309080.1:p.Ser514Ter
NP_001309081.1:p.Ser514Ter
NP_001309083.1:p.Ser295Ter
NP_001309085.1:p.Ser456Ter
NP_001309086.1:p.Ser490Ter
NP_001309087.1:p.Ser432Ter
NP_001309088.1:p.Ser514Ter
NP_001309090.1:p.Ser513Ter
NP_001309091.1:p.Ser514Ter
NP_001309093.1:p.Ser502Ter
NP_001309094.1:p.Ser490Ter
NP_003196.1:p.Ser490Ter
NP_996919.1:p.Ser514Ter
NP_996920.1:p.Ser514Ter
NP_996921.1:p.Ser490Ter
NP_996923.1:p.Ser320Ter
NC_000015.9:g.57554365C>A
NC_000015.9:g.57554365C>A
NM_207036.1:c.1541C>A

Protein change:

S254*

Links:

dbSNP: rs2060619071

NCBI 1000 Genomes Browser:

rs2060619071

Molecular consequence:

NM_001306219.3:c.1031C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001306220.3:c.761C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322151.2:c.1541C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322152.2:c.1541C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322154.2:c.884C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322156.2:c.1367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322157.3:c.1469C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322158.2:c.1295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322159.3:c.1541C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322161.2:c.1538C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322162.2:c.1541C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322164.2:c.1505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322165.2:c.1469C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_003205.4:c.1469C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207036.2:c.1541C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207037.2:c.1541C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207038.2:c.1469C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207040.2:c.959C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: TCF12-related craniosynostosis
Synonyms:: Craniosynostosis 3
Identifiers:: MONDO: MONDO:0014128; MedGen: C3715051; Orphanet: 35098; Orphanet: 35099; OMIM: 615314

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001366447	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001366447

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2016)

unknown

clinical testing

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

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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001366447.2

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.

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

Last Updated: Sep 29, 2024

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