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NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr) AND TWIST1-related craniosynostosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2007
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:
RCV000008449.4

Allele description [Variation Report for NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr)]

NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr)

Genes:
LOC129998021:ATAC-STARR-seq lymphoblastoid active region 25682 [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.556G>A (p.Ala186Thr)
HGVS:
  • NC_000007.14:g.19116766C>T
  • NG_008114.2:g.5907G>A
  • NM_000474.4:c.556G>AMANE SELECT
  • NP_000465.1:p.Ala186Thr
  • NC_000007.13:g.19156389C>T
  • NR_149001.2:n.871G>A
Protein change:
A186T; ALA186THR
Links:
OMIM: 601622.0013; dbSNP: rs121909190
NCBI 1000 Genomes Browser:
rs121909190
Molecular consequence:
  • NM_000474.4:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149001.2:n.871G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
TWIST1-related craniosynostosis (CRS1)
Synonyms:
Craniosynostosis 1
Identifiers:
MONDO: MONDO:0007399; MedGen: C4551902; Orphanet: 63440; OMIM: 123100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028657OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2007) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hopper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML.

Am J Med Genet A. 2007 Apr 1;143A(7):678-86.

PubMed [citation]
PMID:
17343269

Details of each submission

From OMIM, SCV000028657.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male infant with isolated synostosis of the right coronal suture (CRS1; 123100), Seto et al. (2007) identified heterozygosity for a 556G-T transversion in the C-terminal box of the TWIST1 gene, resulting in an ala186-to-thr (A186T) substitution. The patient had no facial anomalies other than the associated facial asymmetry, no 2-3 syndactyly, and neurologic status was normal, although at 18 months of age his mental and psychomotor development was in the low average to mildly delayed range. The mutation was not found in either parent, and there was no family history of craniosynostosis.

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

Last Updated: Oct 14, 2023