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NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) AND Charcot-Marie-Tooth disease type 4H

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 22, 2023
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:
RCV001283349.9

Allele description [Variation Report for NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)]

NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)

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.647C>T (p.Thr216Ile)
HGVS:
  • NC_000012.12:g.32582103C>T
  • NG_008626.2:g.187575C>T
  • NM_001304481.2:c.491C>T
  • NM_001304483.2:c.-609C>T
  • NM_001304484.2:c.-916C>T
  • NM_001330373.2:c.-44C>T
  • NM_001330374.2:c.-44C>T
  • NM_001370297.1:c.49-16394C>T
  • NM_001370298.3:c.647C>TMANE SELECT
  • NM_001384126.1:c.647C>T
  • NM_001384127.1:c.236C>T
  • NM_001384128.1:c.236C>T
  • NM_001384130.1:c.-44C>T
  • NM_001384131.1:c.236C>T
  • NM_001384132.1:c.236C>T
  • NM_001385118.1:c.236C>T
  • NM_139241.3:c.236C>T
  • NP_001291410.1:p.Thr164Ile
  • NP_001291410.1:p.Thr164Ile
  • NP_001357227.2:p.Thr216Ile
  • NP_001371055.1:p.Thr216Ile
  • NP_001371056.1:p.Thr79Ile
  • NP_001371057.1:p.Thr79Ile
  • NP_001371060.1:p.Thr79Ile
  • NP_001371061.1:p.Thr79Ile
  • NP_001372047.1:p.Thr79Ile
  • NP_640334.2:p.Thr79Ile
  • LRG_240t1:c.236C>T
  • LRG_240t2:c.491C>T
  • LRG_240:g.187575C>T
  • LRG_240p1:p.Thr79Ile
  • LRG_240p2:p.Thr164Ile
  • NC_000012.11:g.32735037C>T
  • NM_001304481.1:c.491C>T
  • NM_139241.2:c.236C>T
  • NR_168884.1:n.473C>T
Protein change:
T164I
Links:
dbSNP: rs145115430
NCBI 1000 Genomes Browser:
rs145115430
Molecular consequence:
  • NM_001304483.2:c.-609C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304484.2:c.-916C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330373.2:c.-44C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330374.2:c.-44C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001384130.1:c.-44C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001370297.1:c.49-16394C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304481.2:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370298.3:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384126.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384127.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384128.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384131.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384132.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385118.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139241.3:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_168884.1:n.473C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000885450ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Likely benign
(Sep 22, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885450.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024