NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro) AND Torsion dystonia 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 21, 2022
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:: RCV002267599.2

Allele description [Variation Report for NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro)]

NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro)

Gene:

TUBB4A:tubulin beta 4A class IVa [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro)

HGVS:

NC_000019.10:g.6495777C>G
NG_033896.1:g.12072G>C
NM_001289123.2:c.875G>C
NM_001289127.2:c.857G>C
NM_001289129.2:c.722G>C
NM_001289130.2:c.506G>C
NM_001289131.2:c.506G>C
NM_006087.4:c.722G>CMANE SELECT
NP_001276052.1:p.Arg292Pro
NP_001276056.1:p.Arg286Pro
NP_001276058.1:p.Arg241Pro
NP_001276059.1:p.Arg169Pro
NP_001276060.1:p.Arg169Pro
NP_006078.2:p.Arg241Pro
NC_000019.9:g.6495788C>G

Protein change:

R169P

Links:

dbSNP: rs756958534

NCBI 1000 Genomes Browser:

rs756958534

Molecular consequence:

NM_001289123.2:c.875G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001289127.2:c.857G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001289129.2:c.722G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001289130.2:c.506G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001289131.2:c.506G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006087.4:c.722G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Torsion dystonia 4
Synonyms:: Dystonia musculorum deformans 4; Hereditary whispering dysphonia; Autosomal dominant torsion dystonia 4
Identifiers:: MONDO: MONDO:0007493; MedGen: C1851943; Orphanet: 98805; OMIM: 128101

Recent activity

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PREDICTED: Carassius gibelio secreted frizzled-related protein 1-like (LOC127966...
PREDICTED: Carassius gibelio secreted frizzled-related protein 1-like (LOC127966345), mRNA
gi|2396889811|ref|XM_052567259.1|

Nucleotide
Stelis carnosilabia isolate DB730b internal transcribed spacer 1, partial sequen...
Stelis carnosilabia isolate DB730b internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|342220749|gb|JF934808.1|

Nucleotide
Stelis papillifera isolate DB7186 internal transcribed spacer 1, partial sequenc...
Stelis papillifera isolate DB7186 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|342220753|gb|JF934812.1|

Nucleotide
Pleurothallis ruscifolia isolate FP7254a internal transcribed spacer 1, partial ...
Pleurothallis ruscifolia isolate FP7254a internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|342220754|gb|JF934813.1|

Nucleotide
LOC127819779 [Homo sapiens]
LOC127819779 [Homo sapiens]
Gene ID:127819779

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002549727	Institute of Human Genetics, University of Goettingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 21, 2022)	unknown	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

SCV002549727

Institute of Human Genetics, University of Goettingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 21, 2022)

unknown

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	unknown	unknown	1	not provided	not provided	not provided	not provided	clinical testing

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 Institute of Human Genetics, University of Goettingen, SCV002549727.2

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

Description

The variant c.722G>C (p.(Arg241Pro)) in exon 4 of the TUBB4A-gene is not found in the gnomAD database, it affects a highly conserved nucleotide, a highly conserved amino acid within a protein domain and there is a moderate physicochemical difference between Arg and Pro. This variant has a pathogenic computational verdict based on in silico predictions algorithms. Variant was inherited from unaffected father. ACMG criteria used for classification: PM2, PP2, PP3, BS2.

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

Last Updated: Dec 24, 2023

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