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NM_001069.3(TUBB2A):c.423C>T (p.Gly141=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 6, 2017
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:
RCV000612053.1

Allele description [Variation Report for NM_001069.3(TUBB2A):c.423C>T (p.Gly141=)]

NM_001069.3(TUBB2A):c.423C>T (p.Gly141=)

Gene:
TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.2
Genomic location:
Preferred name:
NM_001069.3(TUBB2A):c.423C>T (p.Gly141=)
HGVS:
  • NC_000006.12:g.3154778G>A
  • NG_042223.1:g.7772C>T
  • NM_001069.3:c.423C>TMANE SELECT
  • NM_001310315.2:c.168C>T
  • NP_001060.1:p.Gly141=
  • NP_001297244.1:p.Gly56=
  • NC_000006.11:g.3155012G>A
  • NM_001069.2:c.423C>T
Links:
dbSNP: rs555332069
NCBI 1000 Genomes Browser:
rs555332069
Molecular consequence:
  • NM_001069.3:c.423C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001310315.2:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000724205GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Nov 6, 2017) 		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, SCV000724205.1

#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: Sep 29, 2024