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NM_178014.4(TUBB):c.57+21_57+22del AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2018
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:
RCV000831942.1

Allele description [Variation Report for NM_178014.4(TUBB):c.57+21_57+22del]

NM_178014.4(TUBB):c.57+21_57+22del

Gene:
TUBB:tubulin beta class I [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_178014.4(TUBB):c.57+21_57+22del
HGVS:
  • NC_000006.12:g.30720582_30720583del
  • NC_000006.12:g.30720584_30720585del
  • NG_034142.1:g.5384_5385del
  • NM_001293213.2:c.57+21_57+22del
  • NM_001293214.2:c.34+44_34+45del
  • NM_178014.4:c.57+21_57+22delMANE SELECT
  • NC_000006.11:g.30688361_30688362del
  • NM_178014.3:c.57+19_57+20delTT
Links:
dbSNP: rs557000578
NCBI 1000 Genomes Browser:
rs557000578
Molecular consequence:
  • NM_001293213.2:c.57+21_57+22del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293214.2:c.34+44_34+45del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_178014.4:c.57+21_57+22del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000973696GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jun 14, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000973696.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022