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NM_000474.4(TWIST1):c.451C>G (p.Leu151Val) AND TWIST1-related craniosynostosis

Germline classification:
Uncertain significance (1 submission)
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:
RCV003446889.1

Allele description [Variation Report for NM_000474.4(TWIST1):c.451C>G (p.Leu151Val)]

NM_000474.4(TWIST1):c.451C>G (p.Leu151Val)

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.451C>G (p.Leu151Val)
HGVS:
  • NC_000007.14:g.19116871G>C
  • NG_008114.2:g.5802C>G
  • NM_000474.4:c.451C>GMANE SELECT
  • NP_000465.1:p.Leu151Val
  • NC_000007.13:g.19156494G>C
  • NM_000474.3:c.451C>G
  • NR_149001.2:n.766C>G
Protein change:
L151V
Links:
dbSNP: rs2115396601
NCBI 1000 Genomes Browser:
rs2115396601
Molecular consequence:
  • NM_000474.4:c.451C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149001.2:n.766C>G - 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
SCV004174112Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV004174112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023