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NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Oct 29, 2013
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:
RCV000081097.17

Allele description [Variation Report for NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)]

NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)

Gene:
FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
HGVS:
  • NC_000023.11:g.54471400C>T
  • NG_008054.1:g.29767G>A
  • NM_004463.3:c.395G>AMANE SELECT
  • NP_004454.2:p.Arg132Gln
  • NP_004454.2:p.Arg132Gln
  • NC_000023.10:g.54497833C>T
  • NM_004463.2:c.395G>A
Protein change:
R132Q
Links:
dbSNP: rs145644275
NCBI 1000 Genomes Browser:
rs145644275
Molecular consequence:
  • NM_004463.3:c.395G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000113005Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Oct 29, 2013) 		germlineclinical testing

Citation Link,

SCV001958215Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113005.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958215.1

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

Last Updated: Nov 10, 2024