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NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile) AND Charcot-Marie-Tooth disease type 4H

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003447169.1

Allele description [Variation Report for NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile)]

NM_001370298.3(FGD4):c.2109G>A (p.Met703Ile)

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.2109G>A (p.Met703Ile)
HGVS:
  • NC_000012.12:g.32625716G>A
  • NG_008626.2:g.231188G>A
  • NM_001304481.2:c.1953G>A
  • NM_001304483.2:c.954G>A
  • NM_001304484.2:c.666G>A
  • NM_001330373.2:c.1419G>A
  • NM_001330374.2:c.1419G>A
  • NM_001370297.1:c.1146G>A
  • NM_001370298.3:c.2109G>AMANE SELECT
  • NM_001384126.1:c.2109G>A
  • NM_001384127.1:c.1698G>A
  • NM_001384128.1:c.1698G>A
  • NM_001384130.1:c.1419G>A
  • NM_001385118.1:c.1698G>A
  • NM_139241.3:c.1698G>A
  • NP_001291410.1:p.Met651Ile
  • NP_001291410.1:p.Met651Ile
  • NP_001291412.1:p.Met318Ile
  • NP_001291413.1:p.Met222Ile
  • NP_001317302.1:p.Met473Ile
  • NP_001317303.1:p.Met473Ile
  • NP_001357226.1:p.Met382Ile
  • NP_001357227.2:p.Met703Ile
  • NP_001371055.1:p.Met703Ile
  • NP_001371056.1:p.Met566Ile
  • NP_001371057.1:p.Met566Ile
  • NP_001371059.1:p.Met473Ile
  • NP_001372047.1:p.Met566Ile
  • NP_640334.2:p.Met566Ile
  • LRG_240t1:c.1698G>A
  • LRG_240t2:c.1953G>A
  • LRG_240:g.231188G>A
  • LRG_240p1:p.Met566Ile
  • LRG_240p2:p.Met651Ile
  • NC_000012.11:g.32778650G>A
  • NM_001304481.1:c.1953G>A
Protein change:
M222I
Links:
dbSNP: rs281865064
NCBI 1000 Genomes Browser:
rs281865064
Molecular consequence:
  • NM_001304481.2:c.1953G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304483.2:c.954G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304484.2:c.666G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330373.2:c.1419G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330374.2:c.1419G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370297.1:c.1146G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370298.3:c.2109G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384126.1:c.2109G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384127.1:c.1698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384128.1:c.1698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384130.1:c.1419G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385118.1:c.1698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139241.3:c.1698G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4H
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4H; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012250; MedGen: C1836336; Orphanet: 99954; OMIM: 609311

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174420Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

Baudot C, Esteve C, Castro C, Poitelon Y, Mas C, Hamadouche T, El-Rajab M, Lévy N, Megarbané A, Delague V.

J Peripher Nerv Syst. 2012 Jun;17(2):141-6. doi: 10.1111/j.1529-8027.2012.00405.x.

PubMed [citation]
PMID:
22734899

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174420.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024