NM_139241.3(FGD4):c.1525_1527del (p.Lys509del) AND Charcot-Marie-Tooth disease, type 4H

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001007470.1

Allele description [Variation Report for NM_139241.3(FGD4):c.1525_1527del (p.Lys509del)]

NM_139241.3(FGD4):c.1525_1527del (p.Lys509del)

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_139241.3(FGD4):c.1525_1527del (p.Lys509del)
HGVS:
  • NC_000012.12:g.32624435_32624437del
  • NG_008626.2:g.229907_229909del
  • NM_001304481.1:c.1780_1782del
  • NM_001304483.1:c.781_783del
  • NM_001304484.1:c.493_495del
  • NM_001330373.1:c.1246_1248del
  • NM_001330374.1:c.1246_1248del
  • NM_001370297.1:c.973_975del
  • NM_001370298.1:c.2017_2019del
  • NM_139241.3:c.1525_1527del
  • NP_001291410.1:p.Lys594del
  • NP_001291412.1:p.Lys261del
  • NP_001291413.1:p.Lys165del
  • NP_001317302.1:p.Lys416del
  • NP_001317303.1:p.Lys416del
  • NP_001357226.1:p.Lys325del
  • NP_001357227.1:p.Lys673del
  • NP_640334.2:p.Lys509del
  • LRG_240t1:c.1525_1527del
  • LRG_240t2:c.1780_1782del
  • LRG_240t3:c.1861_1863del
  • LRG_240:g.229907_229909del
  • LRG_240p1:p.Lys509del
  • LRG_240p2:p.Lys594del
  • LRG_240p3:p.Lys621del
  • NC_000012.11:g.32777369_32777371del
  • NM_139241.2:c.1525_1527delAAA
Protein change:
K165del
Links:
dbSNP: rs1565920164
NCBI 1000 Genomes Browser:
rs1565920164
Molecular consequence:
  • NM_001304481.1:c.1780_1782del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001304483.1:c.781_783del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001304484.1:c.493_495del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330373.1:c.1246_1248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330374.1:c.1246_1248del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001370297.1:c.973_975del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001370298.1:c.2017_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_139241.3:c.1525_1527del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type 4H (CMT4H)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H; Charcot-Marie-Tooth Neuropathy Type 4H
Identifiers:
MONDO: MONDO:0012250; MedGen: C1836336; Orphanet: 99954; OMIM: 609311

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001167086Kariminejad - Najmabadi Pathology & Genetics Centercriteria provided, single submitter
Uncertain significancegermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001167086.1

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

Last Updated: Aug 6, 2020

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