NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr) AND Complex cortical dysplasia with other brain malformations 7

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 26, 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:: RCV000678308.2

Allele description [Variation Report for NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr)]

NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr)

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.491T>C (p.Met164Thr)

HGVS:

NC_000006.12:g.3225598A>G
NG_016715.1:g.7137T>C
NM_178012.5:c.491T>CMANE SELECT
NP_821080.1:p.Met164Thr
NC_000006.11:g.3225832A>G
NM_178012.4:c.491T>C

Protein change:

M164T

Links:

dbSNP: rs1561826815

NCBI 1000 Genomes Browser:

rs1561826815

Molecular consequence:

NM_178012.5:c.491T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Complex cortical dysplasia with other brain malformations 7
Synonyms:: Polymicrogyria, asymmetric
Identifiers:: MONDO: MONDO:0012399; MedGen: C3552236; Orphanet: 300573; OMIM: 610031

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804367	Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 26, 2018)	maternal	provider interpretation, clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804367

Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 26, 2018)

maternal

provider interpretation, clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	1	not provided	not provided	1	not provided	clinical testing, provider interpretation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Geisinger Autism and Developmental Medicine Institute, Geisinger Health System, SCV000804367.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was identified in a 4 year old male with mild global developmental delays, receptive/expressive language disorder, hypotonia, microcephaly, and short stature. Brain MRI revealed pachygyria. Ophthalmology and endocrinology evaluations were normal. This patient's mother, who carries this variant, has learning disability; she has not had subsequent brain imaging. This variant is absent from the gnomAD database. Computational models predict it to be deleterious. It has not been previously reported in the literature, to our knowledge.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided
2	maternal	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 11, 2022

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