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NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2017
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:
RCV002321760.2

Allele description [Variation Report for NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)]

NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)
Other names:
p.Y1108F:TAC>TTC
HGVS:
  • NC_000015.10:g.89318700T>A
  • NG_008218.2:g.21096A>T
  • NG_011736.1:g.79738T>A
  • NM_001126131.2:c.3323A>T
  • NM_002693.3:c.3323A>TMANE SELECT
  • NP_001119603.1:p.Tyr1108Phe
  • NP_002684.1:p.Tyr1108Phe
  • NP_002684.1:p.Tyr1108Phe
  • LRG_765t1:c.3323A>T
  • LRG_500:g.79738T>A
  • LRG_765:g.21096A>T
  • LRG_765p1:p.Tyr1108Phe
  • NC_000015.9:g.89861931T>A
  • NM_002693.2:c.3323A>T
Protein change:
Y1108F
Links:
dbSNP: rs765949668
NCBI 1000 Genomes Browser:
rs765949668
Molecular consequence:
  • NM_001126131.2:c.3323A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.3323A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002606230Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002606230.2

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

Description

The p.Y1108F variant (also known as c.3323A>T), located in coding exon 20 of the POLG gene, results from an A to T substitution at nucleotide position 3323. The tyrosine at codon 1108 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024