NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter) AND Saethre-Chotzen syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 21, 2019
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:: RCV001027722.3

Allele description [Variation Report for NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)]

NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)

Gene:

TWIST1:twist family bHLH transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p21.1

Genomic location:

Preferred name:

NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)

HGVS:

NC_000007.14:g.19116925T>A
NG_008114.2:g.5748A>T
NM_000474.4:c.397A>TMANE SELECT
NP_000465.1:p.Lys133Ter
NC_000007.13:g.19156548T>A
NM_000474.3:c.397A>T
NR_149001.2:n.712A>T

Protein change:

K133*

Links:

dbSNP: rs1585617015

NCBI 1000 Genomes Browser:

rs1585617015

Molecular consequence:

NR_149001.2:n.712A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000474.4:c.397A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Saethre-Chotzen syndrome (SCS)
Synonyms:: ACS III; Acrocephalo-syndactyly, type 3; Chotzen syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007042; MedGen: C0175699; Orphanet: 794; OMIM: 101400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001190307	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 21, 2019)	de novo	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

SCV001190307

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 21, 2019)

de novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Facile, rapid, and large-area periodic patterning of semiconductor substrates with submicron inorganic structures.

Kempa TJ, Bediako DK, Jones EC, Lieber CM, Nocera DG.

J Am Chem Soc. 2015 Mar 25;137(11):3739-42. doi: 10.1021/ja5118717. Epub 2015 Mar 12.

PubMed [citation]

PMID:: 25741869

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190307.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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