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NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 2021
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:
RCV002243762.9

Allele description [Variation Report for NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)]

NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
HGVS:
  • NC_000015.10:g.89319073A>G
  • NG_008218.2:g.20723T>C
  • NG_011736.1:g.80111A>G
  • NM_001126131.2:c.3131T>C
  • NM_002693.3:c.3131T>CMANE SELECT
  • NP_001119603.1:p.Val1044Ala
  • NP_002684.1:p.Val1044Ala
  • NP_002684.1:p.Val1044Ala
  • LRG_765t1:c.3131T>C
  • LRG_500:g.80111A>G
  • LRG_765:g.20723T>C
  • LRG_765p1:p.Val1044Ala
  • NC_000015.9:g.89862304A>G
  • NM_001126131.1:c.3131T>C
  • NM_002693.2:c.3131T>C
  • NM_002693.3:c.3131T>C
  • p.V1044A
Protein change:
V1044A
Links:
dbSNP: rs150233690
NCBI 1000 Genomes Browser:
rs150233690
Molecular consequence:
  • NM_001126131.2:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 (PEOA1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
Identifiers:
MONDO: MONDO:0024528; MedGen: C1834846; OMIM: 157640
Name:
Mitochondrial DNA depletion syndrome 4b
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; Mitochondrial DNA depletion syndrome 4B, MNGIE type
Identifiers:
MONDO: MONDO:0013350; MedGen: C3150914; Orphanet: 298; OMIM: 613662

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002512295Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 27, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024