NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2023
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:: RCV003802237.2

Allele description [Variation Report for NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)]

NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7p21.1

Genomic location:

Preferred name:

NM_000474.4(TWIST1):c.27_35dup (p.Pro12_Ala13insValSerPro)

HGVS:

NC_000007.14:g.19117293_19117301dup
NG_008114.2:g.5378_5386dup
NG_110536.1:g.468_476dup
NM_000474.4:c.27_35dupMANE SELECT
NP_000465.1:p.Pro12_Ala13insValSerPro
NC_000007.13:g.19156909_19156910insGGCGAGACT
NC_000007.13:g.19156916_19156924dup
NR_149001.2:n.342_350dup

Molecular consequence:

NM_000474.4:c.27_35dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_149001.2:n.342_350dup - 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

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

Recent activity

Clear Turn Off Turn On

MULTISPECIES: DUF4294 domain-containing protein [Alistipes]
MULTISPECIES: DUF4294 domain-containing protein [Alistipes]
gi|2161625812|ref|WP_231290541.1|

Protein
MULTISPECIES: hypothetical protein [Alistipes]
MULTISPECIES: hypothetical protein [Alistipes]
gi|2161625807|ref|WP_231290536.1|

Protein
MULTISPECIES: DUF3575 domain-containing protein [Alistipes]
MULTISPECIES: DUF3575 domain-containing protein [Alistipes]
gi|2568419453|ref|WP_306576503.1|

Protein
insulin-like growth factor-binding protein 2-A precursor [Danio rerio]
insulin-like growth factor-binding protein 2-A precursor [Danio rerio]
gi|18858891|ref|NP_571533.1|

Protein
MAG: Chrocamist virus isolate CC1C_k141_25628 genomic sequence
MAG: Chrocamist virus isolate CC1C_k141_25628 genomic sequence
gi|2717317955|gb|PP172033.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004608824	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 8, 2023)	germline	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

SCV004608824

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 8, 2023)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004608824.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.27_35dup, results in the insertion of 3 amino acid(s) of the TWIST1 protein (p.Val10_Pro12dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TWIST1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine