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NM_000474.4(TWIST1):c.260_271del (p.Ala87_Gly90del) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 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:
RCV003317751.1

Allele description [Variation Report for NM_000474.4(TWIST1):c.260_271del (p.Ala87_Gly90del)]

NM_000474.4(TWIST1):c.260_271del (p.Ala87_Gly90del)

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.260_271del (p.Ala87_Gly90del)
HGVS:
  • NC_000007.14:g.19117061_19117072del
  • NG_008114.2:g.5611_5622del
  • NG_110536.1:g.236_247del
  • NM_000474.4:c.260_271delMANE SELECT
  • NP_000465.1:p.Ala87_Gly90del
  • NC_000007.13:g.19156684_19156695del
  • NM_000474.3:c.260_271del12
  • NR_149001.2:n.575_586del
Molecular consequence:
  • NM_000474.4:c.260_271del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_149001.2:n.575_586del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004020633Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 13, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004020633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: TWIST1 c.260_271del12 (p.Ala87_Gly90del) results in an in-frame deletion that is predicted to remove four amino acids from the encoded protein. The variant allele was found at a frequency of 2e-05 in 49100 control chromosomes (gnomAD), but a larger deletion that spans the entirety of this variant was found at a frequency of 0.007 in 92684 control chromosomse with 105 homozygotes (gnomAD). To our knowledge, no occurrence of c.260_271del12 in individuals affected with TWIST1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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

Last Updated: Jul 29, 2023