NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Mar 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001263312.1

Allele description [Variation Report for NM_002693.2(POLG):c.2246T>C (p.Phe749Ser)]

NM_002693.2(POLG):c.2246T>C (p.Phe749Ser)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser)
Other names:
p.F749S:TTT>TCT
HGVS:
  • NC_000015.10:g.89323423A>G
  • NG_008218.2:g.16373T>C
  • NM_001126131.2:c.2246T>C
  • NM_002693.2:c.2246T>C
  • NP_001119603.1:p.Phe749Ser
  • NP_002684.1:p.Phe749Ser
  • LRG_765t1:c.2246T>C
  • LRG_765:g.16373T>C
  • LRG_765p1:p.Phe749Ser
  • NC_000015.9:g.89866654A>G
Protein change:
F749S
Links:
dbSNP: rs202037973
NCBI 1000 Genomes Browser:
rs202037973
Molecular consequence:
  • NM_001126131.2:c.2246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.2:c.2246T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Intellectual disability
Synonyms:
Dull intelligence; Low intelligence; Mental deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001441353New York Genome Center - CSER-NYCKidSeqcriteria provided, single submitter
Likely pathogenic
(Mar 2, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441353.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 17, 2021

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