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NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter) AND TCF12-related craniosynostosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2016
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:
RCV000415362.1

Allele description [Variation Report for NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter)]

NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter)

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.1876C>T (p.Arg626Ter)
HGVS:
  • NC_000015.10:g.57273160C>T
  • NG_033851.2:g.360071C>T
  • NM_001306219.3:c.1366C>T
  • NM_001306220.3:c.1096C>T
  • NM_001322151.2:c.1876C>T
  • NM_001322152.2:c.1873C>T
  • NM_001322154.2:c.1219C>T
  • NM_001322156.2:c.1702C>T
  • NM_001322157.3:c.1804C>T
  • NM_001322158.2:c.1630C>T
  • NM_001322159.3:c.1876C>T
  • NM_001322161.2:c.1873C>T
  • NM_001322162.2:c.1876C>T
  • NM_001322164.2:c.1840C>T
  • NM_001322165.2:c.1804C>T
  • NM_003205.4:c.1804C>T
  • NM_207036.2:c.1876C>T
  • NM_207037.2:c.1876C>TMANE SELECT
  • NM_207038.2:c.1804C>T
  • NM_207040.2:c.1294C>T
  • NP_001293148.1:p.Arg456Ter
  • NP_001293149.1:p.Arg366Ter
  • NP_001309080.1:p.Arg626Ter
  • NP_001309081.1:p.Arg625Ter
  • NP_001309083.1:p.Arg407Ter
  • NP_001309085.1:p.Arg568Ter
  • NP_001309086.1:p.Arg602Ter
  • NP_001309087.1:p.Arg544Ter
  • NP_001309088.1:p.Arg626Ter
  • NP_001309090.1:p.Arg625Ter
  • NP_001309091.1:p.Arg626Ter
  • NP_001309093.1:p.Arg614Ter
  • NP_001309094.1:p.Arg602Ter
  • NP_003196.1:p.Arg602Ter
  • NP_996919.1:p.Arg626Ter
  • NP_996920.1:p.Arg626Ter
  • NP_996921.1:p.Arg602Ter
  • NP_996923.1:p.Arg432Ter
  • NC_000015.9:g.57565358C>T
  • NM_207036.1:c.1876C>T
Protein change:
R366*
Links:
dbSNP: rs758543580
NCBI 1000 Genomes Browser:
rs758543580
Molecular consequence:
  • NM_001306219.3:c.1366C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001306220.3:c.1096C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322151.2:c.1876C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322152.2:c.1873C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322154.2:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322156.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322157.3:c.1804C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322158.2:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322159.3:c.1876C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322161.2:c.1873C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322162.2:c.1876C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322164.2:c.1840C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322165.2:c.1804C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003205.4:c.1804C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_207036.2:c.1876C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_207037.2:c.1876C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_207038.2:c.1804C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_207040.2:c.1294C>T - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000328739Baylor Genetics
no assertion criteria provided
Pathogenic
(May 1, 2016) 		paternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Baylor Genetics, SCV000328739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Our laboratory reported two molecular diagnoses in PTCH1 (NM_000264.3:c.114delG) and TCF12 (NM_207036.1:c.1876C>T) in an individual with delayed motor milestones, hearing loss, dysmorphic features, tall habitus, macrocephaly, overgrowth, oculomotor apraxia, strabismus, a thin corpus callosum and mild ventriculomegaly.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024