NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter) AND Charcot-Marie-Tooth disease type 4

Clinical significance:Pathogenic (Last evaluated: Apr 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001037627.1

Allele description [Variation Report for NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)]

NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)
HGVS:
  • NC_000012.12:g.32598509C>T
  • NG_008626.2:g.203981C>T
  • NM_001304481.1:c.868C>T
  • NM_001304483.2:c.-232C>T
  • NM_001304484.2:c.-539C>T
  • NM_001330373.2:c.334C>T
  • NM_001330374.2:c.334C>T
  • NM_001370297.1:c.61C>T
  • NM_001370298.3:c.1024C>TMANE SELECT
  • NM_001384126.1:c.1024C>T
  • NM_001384127.1:c.613C>T
  • NM_001384128.1:c.613C>T
  • NM_001384130.1:c.334C>T
  • NM_001385118.1:c.613C>T
  • NM_139241.3:c.613C>T
  • NP_001291410.1:p.Gln290Ter
  • NP_001317302.1:p.Gln112Ter
  • NP_001317303.1:p.Gln112Ter
  • NP_001357226.1:p.Gln21Ter
  • NP_001357227.2:p.Gln342Ter
  • NP_001371055.1:p.Gln342Ter
  • NP_001371056.1:p.Gln205Ter
  • NP_001371057.1:p.Gln205Ter
  • NP_001371059.1:p.Gln112Ter
  • NP_001372047.1:p.Gln205Ter
  • NP_640334.2:p.Gln205Ter
  • LRG_240t1:c.613C>T
  • LRG_240t2:c.868C>T
  • LRG_240:g.203981C>T
  • LRG_240p1:p.Gln205Ter
  • LRG_240p2:p.Gln290Ter
  • NC_000012.11:g.32751443C>T
Protein change:
Q112*
Links:
dbSNP: rs201676628
NCBI 1000 Genomes Browser:
rs201676628
Molecular consequence:
  • NM_001304483.2:c.-232C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304484.2:c.-539C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304481.1:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330373.2:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330374.2:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370297.1:c.61C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370298.3:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001384126.1:c.1024C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001384127.1:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001384128.1:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001384130.1:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001385118.1:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_139241.3:c.613C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4
Synonyms:
Charcot-Marie-Tooth, Type 4
Identifiers:
MONDO: MONDO:0018995; MedGen: C4082197

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001201051Invitaecriteria provided, single submitter
Pathogenic
(Apr 11, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, et al.

Am J Hum Genet. 2007 Jul;81(1):158-64. Epub 2007 May 24.

PubMed [citation]
PMID:
17564972
PMCID:
PMC1950925

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001201051.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Gln205*) in the FGD4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FGD4-related conditions. Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

Support Center