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NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV002514848.2

Allele description [Variation Report for NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)]

NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)

Gene:
TUBB2B:tubulin beta 2B class IIb [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.2
Genomic location:
Preferred name:
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
HGVS:
  • NC_000006.12:g.3225487C>G
  • NG_016715.1:g.7248G>C
  • NM_178012.5:c.602G>CMANE SELECT
  • NP_821080.1:p.Cys201Ser
  • NC_000006.11:g.3225721C>G
  • NM_178012.4:c.602G>C
  • Q9BVA1:p.Cys201Ser
Protein change:
C201S
Links:
UniProtKB: Q9BVA1#VAR_063390; dbSNP: rs201922441
NCBI 1000 Genomes Browser:
rs201922441
Molecular consequence:
  • NM_178012.5:c.602G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003712974Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 15, 2021) 		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 Ambry Genetics, SCV003712974.2

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

Description

The c.602G>C (p.C201S) alteration is located in exon 4 (coding exon 4) of the TUBB2B gene. This alteration results from a G to C substitution at nucleotide position 602, causing the cysteine (C) at amino acid position 201 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 13, 2024