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NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2014
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:
RCV000188193.3

Allele description [Variation Report for NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys)]

NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys)

Gene:
MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q28.2
Genomic location:
Preferred name:
NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys)
Other names:
p.E392K:GAA>AAA
HGVS:
  • NC_000004.12:g.127921700C>T
  • NG_008657.1:g.49285G>A
  • NM_001363520.3:c.973G>A
  • NM_001363521.3:c.859G>A
  • NM_001371590.2:c.1039G>A
  • NM_001371591.2:c.1174G>A
  • NM_001371592.2:c.1180G>A
  • NM_001371593.2:c.1060G>A
  • NM_001371594.2:c.1027G>A
  • NM_001371595.1:c.892G>A
  • NM_001371596.2:c.1174G>AMANE SELECT
  • NM_001410765.1:c.724G>A
  • NM_001410766.1:c.*59G>A
  • NM_152778.4:c.1174G>A
  • NP_001350449.1:p.Glu325Lys
  • NP_001350449.1:p.Glu325Lys
  • NP_001350450.1:p.Glu287Lys
  • NP_001350450.1:p.Glu287Lys
  • NP_001358519.1:p.Glu347Lys
  • NP_001358519.1:p.Glu347Lys
  • NP_001358520.1:p.Glu392Lys
  • NP_001358520.1:p.Glu392Lys
  • NP_001358521.1:p.Glu394Lys
  • NP_001358521.1:p.Glu394Lys
  • NP_001358522.1:p.Glu354Lys
  • NP_001358522.1:p.Glu354Lys
  • NP_001358523.1:p.Glu343Lys
  • NP_001358523.1:p.Glu343Lys
  • NP_001358524.1:p.Glu298Lys
  • NP_001358525.1:p.Glu392Lys
  • NP_001397694.1:p.Glu242Lys
  • NP_689991.1:p.Glu392Lys
  • LRG_833t1:c.1174G>A
  • LRG_833t2:c.1174G>A
  • LRG_833:g.49285G>A
  • LRG_833p1:p.Glu392Lys
  • LRG_833p2:p.Glu392Lys
  • NC_000004.11:g.128842855C>T
  • NM_001363520.2:c.973G>A
  • NM_001363521.2:c.859G>A
  • NM_001371590.1:c.1039G>A
  • NM_001371591.1:c.1174G>A
  • NM_001371591.1:c.1174G>A
  • NM_001371592.1:c.1180G>A
  • NM_001371593.1:c.1060G>A
  • NM_001371594.1:c.1027G>A
  • NM_152778.2:c.1174G>A
Protein change:
E242K
Links:
dbSNP: rs773610115
NCBI 1000 Genomes Browser:
rs773610115
Molecular consequence:
  • NM_001363520.3:c.973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363521.3:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371590.2:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371591.2:c.1174G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371592.2:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371593.2:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371594.2:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371595.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371596.2:c.1174G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410765.1:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152778.4:c.1174G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241800GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Oct 27, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241800.11

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

Description

p.Glu392Lys (GAA>AAA): c.1174 G>A in exon 12 of the MFSD8 gene (NM_152778.2). A variant of unknown significance has been identified in the MFSD8 gene. The E392K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E392K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Sep 29, 2024