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NM_022817.3(PER2):c.2068A>G (p.Met690Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 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:
RCV004505823.1

Allele description [Variation Report for NM_022817.3(PER2):c.2068A>G (p.Met690Val)]

NM_022817.3(PER2):c.2068A>G (p.Met690Val)

Gene:
PER2:period circadian regulator 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_022817.3(PER2):c.2068A>G (p.Met690Val)
HGVS:
  • NC_000002.12:g.238255909T>C
  • NG_012146.1:g.37658A>G
  • NM_022817.3:c.2068A>GMANE SELECT
  • NP_073728.1:p.Met690Val
  • NC_000002.11:g.239164550T>C
  • NM_022817.2:c.2068A>G
Protein change:
M690V
Molecular consequence:
  • NM_022817.3:c.2068A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005003502Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 21, 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, SCV005003502.1

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

Description

The c.2068A>G (p.M690V) alteration is located in exon 18 (coding exon 17) of the PER2 gene. This alteration results from a A to G substitution at nucleotide position 2068, causing the methionine (M) at amino acid position 690 to be replaced by a valine (V). 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: May 7, 2024