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NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 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:
RCV000657977.1

Allele description [Variation Report for NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)]

NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)

Gene:
TUBB:tubulin beta class I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)
HGVS:
  • NC_000006.12:g.30723922C>T
  • NG_034142.1:g.8722C>T
  • NM_001293212.2:c.920C>T
  • NM_001293213.2:c.370-116C>T
  • NM_001293214.2:c.728C>T
  • NM_001293215.2:c.644C>T
  • NM_001293216.2:c.644C>T
  • NM_178014.4:c.860C>TMANE SELECT
  • NP_001280141.1:p.Pro307Leu
  • NP_001280143.1:p.Pro243Leu
  • NP_001280144.1:p.Pro215Leu
  • NP_001280145.1:p.Pro215Leu
  • NP_821133.1:p.Pro287Leu
  • NC_000006.11:g.30691699C>T
  • NM_001293212.1:c.920C>T
  • NM_178014.2:c.860C>T
  • NM_178014.3:c.860C>T
Protein change:
P215L
Links:
dbSNP: rs1554202416
NCBI 1000 Genomes Browser:
rs1554202416
Molecular consequence:
  • NM_001293213.2:c.370-116C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293212.2:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293214.2:c.728C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293215.2:c.644C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293216.2:c.644C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178014.4:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779748GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 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, SCV000779748.2

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

Description

The P287L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P287L variant is not observed in large population cohorts (Lek et al., 2016). The P287L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P287L as a likely pathogenic variant.

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

Last Updated: Jun 23, 2024