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NM_005035.4(POLRMT):c.3347A>G (p.Lys1116Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2023
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:
RCV004257616.1

Allele description [Variation Report for NM_005035.4(POLRMT):c.3347A>G (p.Lys1116Arg)]

NM_005035.4(POLRMT):c.3347A>G (p.Lys1116Arg)

Gene:
POLRMT:RNA polymerase mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_005035.4(POLRMT):c.3347A>G (p.Lys1116Arg)
HGVS:
  • NC_000019.10:g.618563T>C
  • NG_023049.1:g.20006A>G
  • NG_052810.1:g.33671T>C
  • NM_001407805.1:c.3347A>G
  • NM_001407806.1:c.3338A>G
  • NM_001407807.1:c.3335A>G
  • NM_001407808.1:c.3356A>G
  • NM_001407809.1:c.3338A>G
  • NM_001407810.1:c.3335A>G
  • NM_001407811.1:c.3305A>G
  • NM_001407812.1:c.3308A>G
  • NM_001407813.1:c.3305A>G
  • NM_001407814.1:c.3269A>G
  • NM_001407815.1:c.3269A>G
  • NM_001407816.1:c.3323+142A>G
  • NM_001407829.1:c.3224A>G
  • NM_001407830.1:c.3122A>G
  • NM_001407831.1:c.3023A>G
  • NM_001407832.1:c.3098+142A>G
  • NM_001407833.1:c.3023A>G
  • NM_001407834.1:c.3014A>G
  • NM_001407835.1:c.2984A>G
  • NM_001407836.1:c.2945A>G
  • NM_005035.4:c.3347A>GMANE SELECT
  • NP_001394734.1:p.Lys1116Arg
  • NP_001394735.1:p.Lys1113Arg
  • NP_001394736.1:p.Lys1112Arg
  • NP_001394737.1:p.Lys1119Arg
  • NP_001394738.1:p.Lys1113Arg
  • NP_001394739.1:p.Lys1112Arg
  • NP_001394740.1:p.Lys1102Arg
  • NP_001394741.1:p.Lys1103Arg
  • NP_001394742.1:p.Lys1102Arg
  • NP_001394743.1:p.Lys1090Arg
  • NP_001394744.1:p.Lys1090Arg
  • NP_001394758.1:p.Lys1075Arg
  • NP_001394759.1:p.Lys1041Arg
  • NP_001394760.1:p.Lys1008Arg
  • NP_001394762.1:p.Lys1008Arg
  • NP_001394763.1:p.Lys1005Arg
  • NP_001394764.1:p.Lys995Arg
  • NP_001394765.1:p.Lys982Arg
  • NP_005026.3:p.Lys1116Arg
  • NC_000019.9:g.618563T>C
  • NM_005035.3:c.3347A>G
  • NR_176425.1:n.3597A>G
Protein change:
K1005R
Molecular consequence:
  • NM_001407816.1:c.3323+142A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407832.1:c.3098+142A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407805.1:c.3347A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407806.1:c.3338A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407807.1:c.3335A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407808.1:c.3356A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407809.1:c.3338A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407810.1:c.3335A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407811.1:c.3305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407812.1:c.3308A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407813.1:c.3305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407814.1:c.3269A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407815.1:c.3269A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407829.1:c.3224A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407830.1:c.3122A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407831.1:c.3023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407833.1:c.3023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407834.1:c.3014A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407835.1:c.2984A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407836.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005035.4:c.3347A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_176425.1:n.3597A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003877937Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 24, 2023) 		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, SCV003877937.2

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

Description

The c.3347A>G (p.K1116R) alteration is located in exon 17 (coding exon 17) of the POLRMT gene. This alteration results from a A to G substitution at nucleotide position 3347, causing the lysine (K) at amino acid position 1116 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024