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

Germline classification:: Benign (3 submissions)
Last evaluated:: Apr 1, 2024
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:: RCV000675441.21

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_001166687.2:c.2087G>A
NM_001166688.2: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_001354741.2:c.2111G>A
NM_001354742.2:c.2087G>A
NM_001354743.2:c.2087G>A
NM_001354744.2:c.2087G>A
NM_001354745.2:c.2000G>A
NM_001354746.2:c.1961G>A
NM_001354747.2:c.1937G>A
NM_001354748.2:c.1937G>A
NM_001363619.2: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_148954.2:n.2390G>A
NR_148955.1:n.3160G>A
NR_148956.2:n.2316G>A
NR_148957.2:n.2545G>A
NR_148958.2:n.2293G>A
NR_148959.2:n.2219G>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_001166687.2:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001166688.2: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_001354741.2:c.2111G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354742.2:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354743.2:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354744.2:c.2087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354745.2:c.2000G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354746.2:c.1961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354747.2:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354748.2:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363619.2:c.1994G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_148954.2:n.2390G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148955.1:n.3160G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148956.2:n.2316G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148957.2:n.2545G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148958.2:n.2293G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148959.2:n.2219G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000518805	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 24, 2021)	germline	clinical testing	Citation Link,
SCV000801121	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Likely benign (Jan 9, 2018)	unknown	clinical testing
SCV002563118	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Apr 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000518805

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 24, 2021)

germline

clinical testing

Citation Link,

SCV000801121

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Likely benign
(Jan 9, 2018)

unknown

clinical testing

SCV002563118

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Apr 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	17	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000518805.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

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

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801121.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From CeGaT Center for Human Genetics Tuebingen, SCV002563118.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	17	not provided	not provided	clinical testing	not provided

Description

PFKM: BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		17	not provided	not provided	not provided

Last Updated: May 12, 2024

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