NM_002693.2(POLG):c.1890C>T (p.Asn630=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Oct 4, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000127566.4

Allele description [Variation Report for NM_002693.2(POLG):c.1890C>T (p.Asn630=)]

NM_002693.2(POLG):c.1890C>T (p.Asn630=)

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.1890C>T (p.Asn630=)
Other names:
p.N630N:AAC>AAT
HGVS:
  • NC_000015.10:g.89325509G>A
  • NG_008218.2:g.14287C>T
  • NM_002693.2:c.1890C>T
  • NP_002684.1:p.Asn630=
  • LRG_765t1:c.1890C>T
  • LRG_765:g.14287C>T
  • LRG_765p1:p.Asn630=
  • NC_000015.9:g.89868740G>A
Links:
dbSNP: rs148658588
NCBI 1000 Genomes Browser:
rs148658588
Molecular consequence:
  • NM_002693.2:c.1890C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
7

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000171143GeneDxcriteria provided, single submitter
Benign
(Jan 30, 2013)
germlineclinical testing

Citation Link,

SCV000332722EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Oct 4, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown7not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000171143.12

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000332722.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided7not providednot providednot provided

Last Updated: Mar 30, 2019

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