NM_139241.3(FGD4):c.88_90dup (p.Gly30dup) AND Charcot-Marie-Tooth disease type 4

Clinical significance:Uncertain significance (Last evaluated: Apr 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_139241.3(FGD4):c.88_90dup (p.Gly30dup)]

NM_139241.3(FGD4):c.88_90dup (p.Gly30dup)

FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_139241.3(FGD4):c.88_90dup (p.Gly30dup)
  • NC_000012.12:g.32576445_32576447dup
  • NG_008626.2:g.181917_181919dup
  • NM_001304481.1:c.343_345dup
  • NM_001304483.1:c.-757_-755dup
  • NM_001304484.1:c.-1064_-1062dup
  • NM_001330373.1:c.-187-5515_-187-5513dup
  • NM_001330374.1:c.-187-5515_-187-5513dup
  • NM_001370297.1:c.48+12156_48+12158dup
  • NM_001370298.1:c.580_582dup
  • NM_139241.3:c.88_90dup
  • NP_001291410.1:p.Gly115dup
  • NP_001357227.1:p.Gly194dup
  • NP_640334.2:p.Gly30dup
  • LRG_240t1:c.88_90dup
  • LRG_240t2:c.343_345dup
  • LRG_240t3:c.424_426dup
  • LRG_240:g.181917_181919dup
  • LRG_240p1:p.Gly30dup
  • LRG_240p2:p.Gly115dup
  • LRG_240p3:p.Gly142dup
  • NC_000012.11:g.32729378_32729379insGGC
  • NC_000012.11:g.32729379_32729381dup
Molecular consequence:
  • NM_001304483.1:c.-757_-755dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304484.1:c.-1064_-1062dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304481.1:c.343_345dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001370298.1:c.580_582dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_139241.3:c.88_90dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001330373.1:c.-187-5515_-187-5513dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330374.1:c.-187-5515_-187-5513dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370297.1:c.48+12156_48+12158dup - intron variant - [Sequence Ontology: SO:0001627]


Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth, Type 4
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)
SCV001221142Invitaecriteria provided, single submitter
Uncertain significance
(Apr 12, 2019)
germlineclinical testing

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

Summary from all submissions

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



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]

Details of each submission

From Invitae, SCV001221142.2

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


This variant, c.88_90dup, results in the insertion of 1 amino acid(s) to the FGD4 protein (p.Gly30dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 7, 2021

Support Center