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NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jul 13, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000082176.17

Allele description [Variation Report for NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)]

NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)

Gene:
FKRP:fukutin related protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)
HGVS:
  • NC_000019.10:g.46755854C>A
  • NG_008898.2:g.14809C>A
  • NM_001039885.3:c.404C>A
  • NM_024301.5:c.404C>AMANE SELECT
  • NP_001034974.1:p.Ala135Asp
  • NP_077277.1:p.Ala135Asp
  • NP_077277.1:p.Ala135Asp
  • LRG_761t1:c.404C>A
  • LRG_761:g.14809C>A
  • LRG_761p1:p.Ala135Asp
  • NC_000019.9:g.47259111C>A
  • NM_024301.4:c.404C>A
Protein change:
A135D
Links:
dbSNP: rs398124392
NCBI 1000 Genomes Browser:
rs398124392
Molecular consequence:
  • NM_001039885.3:c.404C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.404C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000114122Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Aug 28, 2013) 		germlineclinical testing

Citation Link,

SCV001788651GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 13, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000114122.8

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

From GeneDx, SCV001788651.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 26, 2024