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NM_024301.5(FKRP):c.1179A>G (p.Val393=) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 18, 2019
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:
RCV000178362.11

Allele description [Variation Report for NM_024301.5(FKRP):c.1179A>G (p.Val393=)]

NM_024301.5(FKRP):c.1179A>G (p.Val393=)

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.1179A>G (p.Val393=)
HGVS:
  • NC_000019.10:g.46756629A>G
  • NG_008898.2:g.15584A>G
  • NM_001039885.3:c.1179A>G
  • NM_024301.5:c.1179A>GMANE SELECT
  • NP_001034974.1:p.Val393=
  • NP_077277.1:p.Val393=
  • LRG_761t1:c.1179A>G
  • LRG_761:g.15584A>G
  • LRG_761p1:p.Val393=
  • NC_000019.9:g.47259886A>G
  • NM_024301.4:c.1179A>G
Links:
dbSNP: rs145894568
NCBI 1000 Genomes Browser:
rs145894568
Molecular consequence:
  • NM_001039885.3:c.1179A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_024301.5:c.1179A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000230428Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely benign
(May 21, 2015)
germlineclinical testing

Citation Link,

SCV002065976Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Jan 18, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000230428.5

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

From Genetic Services Laboratory, University of Chicago, SCV002065976.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024