NM_000289.6(PFKM):c.2087G>A (p.Arg696His) AND not provided

Clinical significance:Benign (Last evaluated: Mar 24, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000675441.5

Allele description [Variation Report for NM_000289.6(PFKM):c.2087G>A (p.Arg696His)]

NM_000289.6(PFKM):c.2087G>A (p.Arg696His)

Gene:
PFKM:phosphofructokinase, muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
HGVS:
  • NC_000012.12:g.48145125G>A
  • NG_016199.2:g.44873G>A
  • NM_000289.6:c.2087G>AMANE SELECT
  • NM_001166686.2:c.2300G>A
  • NM_001166687.1:c.2087G>A
  • NM_001166688.1:c.2087G>A
  • NM_001354735.1:c.2396G>A
  • NM_001354736.1:c.2396G>A
  • NM_001354737.1:c.2300G>A
  • NM_001354738.1:c.2300G>A
  • NM_001354739.1:c.2300G>A
  • NM_001354740.1:c.2231G>A
  • NM_001354741.1:c.2111G>A
  • NM_001354742.1:c.2087G>A
  • NM_001354743.1:c.2087G>A
  • NM_001354744.1:c.2087G>A
  • NM_001354745.1:c.2000G>A
  • NM_001354746.1:c.1961G>A
  • NM_001354747.1:c.1937G>A
  • NM_001354748.1:c.1937G>A
  • NM_001363619.1:c.1994G>A
  • NP_000280.1:p.Arg696His
  • NP_001160158.1:p.Arg767His
  • NP_001160159.1:p.Arg696His
  • NP_001160160.1:p.Arg696His
  • NP_001341664.1:p.Arg799His
  • NP_001341665.1:p.Arg799His
  • NP_001341666.1:p.Arg767His
  • NP_001341667.1:p.Arg767His
  • NP_001341668.1:p.Arg767His
  • NP_001341669.1:p.Arg744His
  • NP_001341670.1:p.Arg704His
  • NP_001341671.1:p.Arg696His
  • NP_001341672.1:p.Arg696His
  • NP_001341673.1:p.Arg696His
  • NP_001341674.1:p.Arg667His
  • NP_001341675.1:p.Arg654His
  • NP_001341676.1:p.Arg646His
  • NP_001341677.1:p.Arg646His
  • NP_001350548.1:p.Arg665His
  • LRG_1177t1:c.2087G>A
  • LRG_1177:g.44873G>A
  • LRG_1177p1:p.Arg696His
  • NC_000012.11:g.48538908G>A
  • NM_000289.5:c.2087G>A
  • NM_001166686.1:c.2300G>A
  • NR_148954.1:n.2524G>A
  • NR_148955.1:n.3160G>A
  • NR_148956.1:n.2450G>A
  • NR_148957.1:n.2679G>A
  • NR_148958.1:n.2427G>A
  • NR_148959.1:n.2353G>A
  • P08237:p.Arg696His
Protein change:
R646H
Links:
UniProtKB: P08237#VAR_006069; dbSNP: rs41291971
NCBI 1000 Genomes Browser:
rs41291971
Molecular consequence:
  • NM_000289.6:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166686.2:c.2300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166687.1:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166688.1:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354735.1:c.2396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354736.1:c.2396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354737.1:c.2300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354738.1:c.2300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354739.1:c.2300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354740.1:c.2231G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354741.1:c.2111G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354742.1:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354743.1:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354744.1:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354745.1:c.2000G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354746.1:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354747.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354748.1:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363619.1:c.1994G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148954.1:n.2524G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148955.1:n.3160G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148956.1:n.2450G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148957.1:n.2679G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148958.1:n.2427G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148959.1:n.2353G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000518805GeneDxcriteria provided, single submitter
Benign
(Mar 24, 2021)
germlineclinical testing

Citation Link,

SCV000801121Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedLikely benign
(Jan 9, 2018)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000518805.5

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

Description

This variant is associated with the following publications: (PMID: 22133655, 7825568, 22995991, 20981092)

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801121.1

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

Last Updated: Aug 17, 2021

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