NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del) AND Charcot-Marie-Tooth disease type 4H

Germline classification:: Uncertain significance (1 submission)
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:: RCV001007470.1

Allele description [Variation Report for NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del)]

NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del)

Gene:

FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p11.21

Genomic location:

Preferred name:

NM_001370298.3(FGD4):c.1936_1938del (p.Lys646del)

HGVS:

NC_000012.12:g.32624435_32624437del
NG_008626.2:g.229907_229909del
NM_001304481.2:c.1780_1782delAAA
NM_001304483.2:c.781_783del
NM_001304484.2:c.493_495del
NM_001330373.2:c.1246_1248del
NM_001330374.2:c.1246_1248del
NM_001370297.1:c.973_975del
NM_001370298.3:c.1936_1938delMANE SELECT
NM_001384126.1:c.1936_1938del
NM_001384127.1:c.1525_1527del
NM_001384128.1:c.1525_1527del
NM_001384130.1:c.1246_1248del
NM_001385118.1:c.1525_1527del
NM_139241.3:c.1525_1527del
NP_001291410.1:p.Lys594del
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_001357227.2:p.Lys646del
NP_001371055.1:p.Lys646del
NP_001371056.1:p.Lys509del
NP_001371057.1:p.Lys509del
NP_001371059.1:p.Lys416del
NP_001372047.1:p.Lys509del
NP_640334.2:p.Lys509del
LRG_240t1:c.1525_1527del
LRG_240t2:c.1780_1782del
LRG_240:g.229907_229909del
LRG_240p1:p.Lys509del
LRG_240p2:p.Lys594del
NC_000012.11:g.32777369_32777371del
NM_001304481.1:c.1780_1782del
NM_139241.2:c.1525_1527delAAA

Protein change:

K165del

Links:

dbSNP: rs1565920164

NCBI 1000 Genomes Browser:

rs1565920164

Molecular consequence:

NM_001304483.2:c.781_783del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001304484.2:c.493_495del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001330373.2:c.1246_1248del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001330374.2:c.1246_1248del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370297.1:c.973_975del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370298.3:c.1936_1938del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001384126.1:c.1936_1938del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001384127.1:c.1525_1527del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001384128.1:c.1525_1527del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001384130.1:c.1246_1248del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001385118.1:c.1525_1527del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_139241.3:c.1525_1527del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001304481.2:c.1780_1782delAAA - inframe_indel - [Sequence Ontology: SO:0001820]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167086	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	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

SCV001167086

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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