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NM_024301.5(FKRP):c.436G>A (p.Glu146Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2023
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:
RCV004259598.1

Allele description [Variation Report for NM_024301.5(FKRP):c.436G>A (p.Glu146Lys)]

NM_024301.5(FKRP):c.436G>A (p.Glu146Lys)

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.436G>A (p.Glu146Lys)
HGVS:
  • NC_000019.10:g.46755886G>A
  • NG_008898.2:g.14841G>A
  • NM_001039885.3:c.436G>A
  • NM_024301.5:c.436G>AMANE SELECT
  • NP_001034974.1:p.Glu146Lys
  • NP_077277.1:p.Glu146Lys
  • LRG_761t1:c.436G>A
  • LRG_761:g.14841G>A
  • LRG_761p1:p.Glu146Lys
  • NC_000019.9:g.47259143G>A
  • NM_024301.4:c.436G>A
Protein change:
E146K
Molecular consequence:
  • NM_001039885.3:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003885939Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 23, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003885939.2

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

Description

The c.436G>A (p.E146K) alteration is located in exon 4 (coding exon 1) of the FKRP gene. This alteration results from a G to A substitution at nucleotide position 436, causing the glutamic acid (E) at amino acid position 146 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024