NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 6, 2022
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:: RCV002338856.3

Allele description [Variation Report for NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)]

NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)

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.456C>G (p.Ser152Arg)

HGVS:

NC_000019.10:g.46755906C>G
NG_008898.2:g.14861C>G
NM_001039885.3:c.456C>G
NM_024301.5:c.456C>GMANE SELECT
NP_001034974.1:p.Ser152Arg
NP_077277.1:p.Ser152Arg
LRG_761t1:c.456C>G
LRG_761:g.14861C>G
LRG_761p1:p.Ser152Arg
NC_000019.9:g.47259163C>G
NM_024301.4:c.456C>G

Protein change:

S152R

Links:

dbSNP: rs199714523

NCBI 1000 Genomes Browser:

rs199714523

Molecular consequence:

NM_001039885.3:c.456C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024301.5:c.456C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Fraxinus baroniana]
gi|1677618708|gb|QCW64361.1|

Protein
maturase K, partial (chloroplast) [Fraxinus americana]
maturase K, partial (chloroplast) [Fraxinus americana]
gi|766947885|gb|AJT37703.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002640247	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Jul 6, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30564623, 31638414 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002640247

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Jul 6, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M.

Ann Clin Transl Neurol. 2018 Dec;5(12):1574-1587. doi: 10.1002/acn3.649.

PubMed [citation]

PMID:: 30564623
PMCID:: PMC6292381

Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation.

Goodyer WR, Dunn K, Caleshu C, Jackson M, Wylie J, Moscarello T, Platt J, Reuter C, Smith A, Trela A, Ceresnak SR, Motonaga KS, Ashley E, Yang P, Dubin AM, Perez M.

Circ Genom Precis Med. 2019 Nov;12(11):e002713. doi: 10.1161/CIRCGEN.119.002713. Epub 2019 Oct 22. No abstract available.

PubMed [citation]

PMID:: 31638414
PMCID:: PMC10626994

Details of each submission

From Ambry Genetics, SCV002640247.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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