NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) AND Charcot-Marie-Tooth disease, type 4J

Clinical significance:Uncertain significance (Last evaluated: Mar 5, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000662126.3

Allele description [Variation Report for NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)]

NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)

Gene:
FIG4:FIG4 phosphoinositide 5-phosphatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
HGVS:
  • NC_000006.12:g.109741502A>T
  • NG_007977.1:g.55282A>T
  • NM_014845.5:c.834A>T
  • NM_014845.6:c.834A>TMANE SELECT
  • NP_055660.1:p.Lys278Asn
  • NP_055660.1:p.Lys278Asn
  • LRG_241t1:c.834A>T
  • LRG_241:g.55282A>T
  • LRG_241p1:p.Lys278Asn
  • NC_000006.11:g.110062705A>T
Protein change:
K278N
Links:
dbSNP: rs138048706
NCBI 1000 Genomes Browser:
rs138048706
Molecular consequence:
  • NM_014845.5:c.834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014845.6:c.834A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Charcot-Marie-Tooth disease, type 4J (CMT4J)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J; Charcot-Marie-Tooth Neuropathy Type 4J
Identifiers:
MONDO: MONDO:0012640; MedGen: C1970011; Orphanet: 139515; OMIM: 611228

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000784469Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Uncertain significance
(Mar 5, 2018)
inheritedclinical testing

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

SCV001316190Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedinheritedyes1not 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 Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000784469.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001316190.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 6, 2021

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