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NM_153638.4(PANK2):c.-11G>A AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Sep 5, 2018
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:
RCV000675586.16

Allele description [Variation Report for NM_153638.4(PANK2):c.-11G>A]

NM_153638.4(PANK2):c.-11G>A

Gene:
PANK2:pantothenate kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p13
Genomic location:
Preferred name:
NM_153638.4(PANK2):c.-11G>A
HGVS:
  • NC_000020.11:g.3889090G>A
  • NG_008131.3:g.5252G>A
  • NG_142303.1:g.729G>A
  • NG_199761.1:g.169G>A
  • NM_001324191.1:c.-1052G>A
  • NM_001324192.1:c.-11G>A
  • NM_024960.6:c.-246+186G>A
  • NM_153638.4:c.-11G>A
  • LRG_1016t1:c.-11G>A
  • LRG_1016:g.5252G>A
  • NC_000020.10:g.3869737G>A
  • NM_153638.2:c.-11G>A
  • NR_136715.1:n.157G>A
Links:
dbSNP: rs71647826
NCBI 1000 Genomes Browser:
rs71647826
Molecular consequence:
  • NM_001324192.1:c.-11G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_153638.4:c.-11G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_024960.6:c.-246+186G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000801277Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Benign
(Feb 14, 2018) 		unknownclinical testing

SCV001888276GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Sep 5, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801277.1

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

From GeneDx, SCV001888276.1

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

Last Updated: Oct 13, 2024