NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) AND Charcot-Marie-Tooth disease type 4C

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Aug 21, 2019
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:: RCV000020888.6

Allele description [Variation Report for NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)]

NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)

Gene:

SH3TC2:SH3 domain and tetratricopeptide repeats 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)

HGVS:

NC_000005.10:g.149027760G>A
NG_007947.2:g.40415C>T
NM_024577.4:c.1972C>TMANE SELECT
NP_078853.2:p.Arg658Cys
NP_078853.2:p.Arg658Cys
LRG_269t1:c.1972C>T
LRG_269:g.40415C>T
LRG_269p1:p.Arg658Cys
NC_000005.9:g.148407323G>A
NM_024577.3:c.1972C>T
NM_024577.4:c.1972C>T
Q8TF17:p.Arg658Cys

Protein change:

R658C

Links:

UniProtKB: Q8TF17#VAR_018270; dbSNP: rs80338926

NCBI 1000 Genomes Browser:

rs80338926

Molecular consequence:

NM_024577.4:c.1972C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 4C (CMT4C)
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C; CMT 4C; Charcot-Marie-Tooth Neuropathy Type 4C (CMT4C); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011113; MedGen: C1866636; Orphanet: 99949; OMIM: 601596

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cyclic nucleotide-binding domain-containing protein [Paraburkholderia acidiphila...
cyclic nucleotide-binding domain-containing protein [Paraburkholderia acidiphila]
gi|1787165038|gnl|PRJNA534068|FAZ97 0|gb|QGZ59056.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000041484	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 14574644, 20301514
SCV001190290	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 21, 2019)	maternal	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

SCV000041484

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001190290

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 21, 2019)

maternal

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, et al.

Am J Hum Genet. 2003 Nov;73(5):1106-19. Epub 2003 Oct 21.

PubMed [citation]

PMID:: 14574644
PMCID:: PMC1180490

Azzedine H, Salih MA.

2008 Mar 31 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301514

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000041484.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

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

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001190290.1

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

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

Last Updated: Oct 8, 2024

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