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NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 13, 2023
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:
RCV002275121.17

Allele description [Variation Report for NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)]

NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)

Gene:
PFKM:phosphofructokinase, muscle [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
Other names:
p.Gln447Lys
HGVS:
  • NC_000012.12:g.48140868_48140869delinsAA
  • NG_016199.2:g.40616_40617delinsAA
  • NM_000289.6:c.1338_1339delinsAAMANE SELECT
  • NM_001166686.2:c.1551_1552delinsAA
  • NM_001166687.2:c.1338_1339delinsAA
  • NM_001166688.2:c.1338_1339delinsAA
  • NM_001354735.1:c.1647_1648delinsAA
  • NM_001354736.1:c.1647_1648delinsAA
  • NM_001354737.1:c.1551_1552delinsAA
  • NM_001354738.1:c.1551_1552delinsAA
  • NM_001354739.1:c.1551_1552delinsAA
  • NM_001354740.1:c.1482_1483delinsAA
  • NM_001354741.2:c.1362_1363delinsAA
  • NM_001354742.2:c.1338_1339delinsAA
  • NM_001354743.2:c.1338_1339delinsAA
  • NM_001354744.2:c.1338_1339delinsAA
  • NM_001354745.2:c.1251_1252delinsAA
  • NM_001354746.2:c.1212_1213delinsAA
  • NM_001354747.2:c.1188_1189delinsAA
  • NM_001354748.2:c.1188_1189delinsAA
  • NM_001363619.2:c.1245_1246delinsAA
  • NP_000280.1:p.Gln447Lys
  • NP_001160158.1:p.Gln518Lys
  • NP_001160159.1:p.Gln447Lys
  • NP_001160160.1:p.Gln447Lys
  • NP_001341664.1:p.Gln550Lys
  • NP_001341665.1:p.Gln550Lys
  • NP_001341666.1:p.Gln518Lys
  • NP_001341667.1:p.Gln518Lys
  • NP_001341668.1:p.Gln518Lys
  • NP_001341669.1:p.Gln495Lys
  • NP_001341670.1:p.Gln455Lys
  • NP_001341671.1:p.Gln447Lys
  • NP_001341672.1:p.Gln447Lys
  • NP_001341673.1:p.Gln447Lys
  • NP_001341674.1:p.Gln418Lys
  • NP_001341675.1:p.Gln405Lys
  • NP_001341676.1:p.Gln397Lys
  • NP_001341677.1:p.Gln397Lys
  • NP_001350548.1:p.Gln416Lys
  • LRG_1177t1:c.1338_1339delinsAA
  • LRG_1177:g.40616_40617delinsAA
  • LRG_1177p1:p.Gln447Lys
  • NC_000012.11:g.48534651_48534652delinsAA
  • NM_000289.5:c.1338_1339delGCinsAA
  • NM_000289.5:c.1338_1339delinsAA
  • NR_148954.2:n.1641_1642delinsAA
  • NR_148955.1:n.2411_2412delinsAA
  • NR_148956.2:n.1567_1568delinsAA
  • NR_148957.2:n.1796_1797delinsAA
  • NR_148958.2:n.1544_1545delinsAA
  • NR_148959.2:n.1470_1471delinsAA
Protein change:
Q397K
Links:
dbSNP: rs1555206566
NCBI 1000 Genomes Browser:
rs1555206566
Molecular consequence:
  • NM_000289.6:c.1338_1339delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166686.2:c.1551_1552delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166687.2:c.1338_1339delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166688.2:c.1338_1339delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354735.1:c.1647_1648delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354736.1:c.1647_1648delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354737.1:c.1551_1552delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354738.1:c.1551_1552delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354739.1:c.1551_1552delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354740.1:c.1482_1483delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354741.2:c.1362_1363delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354742.2:c.1338_1339delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354743.2:c.1338_1339delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354744.2:c.1338_1339delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354745.2:c.1251_1252delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354746.2:c.1212_1213delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354747.2:c.1188_1189delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354748.2:c.1188_1189delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363619.2:c.1245_1246delinsAA - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148954.2:n.1641_1642delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148955.1:n.2411_2412delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148956.2:n.1567_1568delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148957.2:n.1796_1797delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148958.2:n.1544_1545delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148959.2:n.1470_1471delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002563117CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Sep 1, 2018) 		germlineclinical testing

Citation Link,

SCV004226332Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes1not 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 CeGaT Center for Human Genetics Tuebingen, SCV002563117.16

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226332.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

BS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 20, 2024