NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) AND Saethre-Chotzen syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1997
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:: RCV000008438.4

Allele description [Variation Report for NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro)]

NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro)

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.356A>C (p.Gln119Pro)

HGVS:

NC_000007.14:g.19116966T>G
NG_008114.2:g.5707A>C
NM_000474.4:c.356A>CMANE SELECT
NP_000465.1:p.Gln119Pro
NC_000007.13:g.19156589T>G
NR_149001.2:n.671A>C

Protein change:

Q119P; GLN119PRO

Links:

OMIM: 601622.0002; dbSNP: rs104894057

NCBI 1000 Genomes Browser:

rs104894057

Molecular consequence:

NM_000474.4:c.356A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_149001.2:n.671A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000028646	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028646

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1997)

germline

literature only

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	literature only

Citations

PubMed

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW.

Nat Genet. 1997 Jan;15(1):36-41.

PubMed [citation]

PMID:: 8988166

Details of each submission

From OMIM, SCV000028646.2

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

Description

In affected members of a family with Saethre-Chotzen syndrome (SCS; 101400), Howard et al. (1997) demonstrated a Q119P (gln119-to-pro) mutation in the TWIST gene that most likely resulted in the disruption of the alpha helix in the DNA-binding domain. Therefore, they predicted that the mutation would alter or abolish the ability of this mutant TWIST to bind DNA.

#	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	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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