NM_002693.2(POLG):c.2027C>T (p.Ala676Val) AND not specified

replaced

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 25, 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:: RCV000522429.1

Allele description

NM_002693.2(POLG):c.2027C>T (p.Ala676Val)

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.2027C>T (p.Ala676Val)

HGVS:

NC_000015.10:g.89324150G>A
NG_008218.2:g.15646C>T
NM_002693.2:c.2027C>T
NP_002684.1:p.Ala676Val
LRG_765t1:c.2027C>T
LRG_765:g.15646C>T
LRG_765p1:p.Ala676Val
NC_000015.9:g.89867381G>A

Protein change:

A676V

Links:

dbSNP: rs376306906

NCBI 1000 Genomes Browser:

rs376306906

Molecular consequence:

NM_002693.2:c.2027C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000619733	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 25, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000619733

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 25, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000619733.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The A676V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 9/11,556 (0.08%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016). The A676V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 31, 2019

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