NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile) AND Charcot-Marie-Tooth disease type 4

Clinical significance:Benign (Last evaluated: Nov 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001513461.1

Allele description [Variation Report for NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile)]

NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile)

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.1075G>A (p.Val359Ile)
HGVS:
  • NC_000012.12:g.32598560G>A
  • NG_008626.2:g.204032G>A
  • NM_001304481.1:c.919G>A
  • NM_001304483.2:c.-181G>A
  • NM_001304484.2:c.-488G>A
  • NM_001330373.2:c.385G>A
  • NM_001330374.2:c.385G>A
  • NM_001370297.1:c.112G>A
  • NM_001370298.3:c.1075G>AMANE SELECT
  • NM_001384126.1:c.1075G>A
  • NM_001384127.1:c.664G>A
  • NM_001384128.1:c.664G>A
  • NM_001384130.1:c.385G>A
  • NM_001385118.1:c.664G>A
  • NM_139241.3:c.664G>A
  • NP_001291410.1:p.Val307Ile
  • NP_001317302.1:p.Val129Ile
  • NP_001317303.1:p.Val129Ile
  • NP_001357226.1:p.Val38Ile
  • NP_001357227.2:p.Val359Ile
  • NP_001371055.1:p.Val359Ile
  • NP_001371056.1:p.Val222Ile
  • NP_001371057.1:p.Val222Ile
  • NP_001371059.1:p.Val129Ile
  • NP_001372047.1:p.Val222Ile
  • NP_640334.2:p.Val222Ile
  • LRG_240t1:c.664G>A
  • LRG_240t2:c.919G>A
  • LRG_240:g.204032G>A
  • LRG_240p1:p.Val222Ile
  • LRG_240p2:p.Val307Ile
  • NC_000012.11:g.32751494G>A
  • NM_139241.2:c.664G>A
Protein change:
V129I
Molecular consequence:
  • NM_001304483.2:c.-181G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304484.2:c.-488G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304481.1:c.919G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330373.2:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330374.2:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370297.1:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370298.3:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384126.1:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384127.1:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384128.1:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384130.1:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385118.1:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139241.3:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4
Synonyms:
Charcot-Marie-Tooth, Type 4
Identifiers:
MONDO: MONDO:0018995; MedGen: C4082197

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001721079Invitaecriteria provided, single submitter
Benign
(Nov 30, 2020)
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

Citations

PubMed

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]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001721079.1

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

Last Updated: Sep 23, 2021

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