NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Mar 10, 2020
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:: RCV001723838.2

Allele description [Variation Report for NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)]

NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7p21.1

Genomic location:

Preferred name:

NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del)

HGVS:

NC_000007.14:g.19117061_19117078del
NG_008114.2:g.5610_5627del
NM_000474.4:c.259_276delMANE SELECT
NP_000465.1:p.Ala87_Gly92del
NC_000007.13:g.19156669_19156686del
NC_000007.13:g.19156684_19156701del
NM_000474.3:c.259_276delGCGGGCGGCGGCGGCGGC
NR_149001.2:n.574_591del

Links:

dbSNP: rs544465774

NCBI 1000 Genomes Browser:

rs544465774

Molecular consequence:

NM_000474.4:c.259_276del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_149001.2:n.574_591del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001950531	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001950531

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 10, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001950531.2

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

Description

This variant is associated with the following publications: (PMID: 24166674, 15253176, 11748846, 24706433, 17343269, 16838304, 15880747)

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

Last Updated: Sep 29, 2024

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