VCV000127269.1 - ClinVar

NM_207037.2(TCF12):c.1000_1001del (p.Gln334fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_207037.2(TCF12):c.1000_1001del (p.Gln334fs)

Variation ID: 127269 Accession: VCV000127269.1

Type and length

Microsatellite, 2 bp

Location

Cytogenetic: 15q21.3 15: 57234070-57234071 (GRCh38) [ NCBI UCSC ] 15: 57526268-57526269 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Feb 9, 2015	Feb 9, 2015	Sep 2, 2013

HGVS

Nucleotide	Protein	Molecular consequence
NM_207037.2:c.1000_1001del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_996920.1:p.Gln334fs	frameshift
NM_001306219.3:c.490_491del	NP_001293148.1:p.Gln164fs	frameshift
NM_001306220.3:c.292_293del	NP_001293149.1:p.Gln98fs	frameshift
NM_001322151.2:c.1000_1001del	NP_001309080.1:p.Gln334fs	frameshift
NM_001322152.2:c.1000_1001del	NP_001309081.1:p.Gln334fs	frameshift
NM_001322154.2:c.343_344del	NP_001309083.1:p.Gln115fs	frameshift
NM_001322156.2:c.826_827del	NP_001309085.1:p.Gln276fs	frameshift
NM_001322157.3:c.1000_1001del	NP_001309086.1:p.Gln334fs	frameshift
NM_001322158.2:c.826_827del	NP_001309087.1:p.Gln276fs	frameshift
NM_001322159.3:c.1000_1001del	NP_001309088.1:p.Gln334fs	frameshift
NM_001322161.2:c.1000_1001del	NP_001309090.1:p.Gln334fs	frameshift
NM_001322162.2:c.1000_1001del	NP_001309091.1:p.Gln334fs	frameshift
NM_001322164.2:c.1036_1037del	NP_001309093.1:p.Gln346fs	frameshift
NM_001322165.2:c.1000_1001del	NP_001309094.1:p.Gln334fs	frameshift
NM_003205.4:c.1000_1001del	NP_003196.1:p.Gln334fs	frameshift
NM_207036.2:c.1000_1001del	NP_996919.1:p.Gln334fs	frameshift
NM_207038.2:c.1000_1001del	NP_996921.1:p.Gln334fs	frameshift
NM_207040.2:c.490_491del	NP_996923.1:p.Gln164fs	frameshift
NC_000015.10:g.57234070CA[1]
NC_000015.9:g.57526268CA[1]
NG_033851.2:g.320981CA[1]

... more HGVS ... less HGVS

Protein change

Q98fs, Q334fs, Q346fs, Q115fs, Q164fs, Q276fs

Other names

Canonical SPDI

NC_000015.10:57234069:CACA:CA

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA185934 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TCF12		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	380	402

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
TCF12-related craniosynostosis	Pathogenic (1)	criteria provided, single submitter	Sep 2, 2013	RCV000157614.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Sep 02, 2013)	criteria provided, single submitter (Submitter's publication) Method: research	Craniosynostosis 3 Affected status: yes Allele origin: germline	UF de Génétique Moléculaire, Hôpital Lariboisière Study: Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations Accession: SCV000115328.2 First in ClinVar: Feb 09, 2015 Last updated: Feb 09, 2015	Publications: PubMed (1) PubMed: 24736737 Sex: female Ethnicity/Population group: Caucasian

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.	di Rocco F	European journal of human genetics : EJHG	2014	PMID: 24736737

Text-mined citations for this variant ...

Record last updated Sep 17, 2024

ClinVar Genomic variation as it relates to human health

NM_207037.2(TCF12):c.1000_1001del (p.Gln334fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...