NM_001377275.1(PER3):c.1250A>G (p.His417Arg) AND Advanced sleep phase syndrome 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 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:: RCV000494693.1

Allele description [Variation Report for NM_001377275.1(PER3):c.1250A>G (p.His417Arg)]

NM_001377275.1(PER3):c.1250A>G (p.His417Arg)

Gene:

PER3:period circadian regulator 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_001377275.1(PER3):c.1250A>G (p.His417Arg)

HGVS:

NC_000001.11:g.7809900A>G
NG_046850.1:g.30521A>G
NM_001289861.2:c.1250A>G
NM_001289862.2:c.1250A>G
NM_001289863.3:c.1250A>G
NM_001289864.3:c.293A>G
NM_001377275.1:c.1250A>GMANE SELECT
NM_001377276.1:c.1250A>G
NM_016831.4:c.1247A>G
NP_001276790.1:p.His417Arg
NP_001276791.1:p.His417Arg
NP_001276791.1:p.His417Arg
NP_001276792.1:p.His417Arg
NP_001276793.1:p.His98Arg
NP_001364204.1:p.His417Arg
NP_001364205.1:p.His417Arg
NP_058515.1:p.His416Arg
NC_000001.10:g.7869960A>G
NM_001289862.1:c.1250A>G
NM_016831.2:c.1247A>G

Protein change:

H416R; HIS417ARG

Links:

OMIM: 603427.0001; dbSNP: rs139315125

NCBI 1000 Genomes Browser:

rs139315125

Molecular consequence:

NM_001289861.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289862.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289863.3:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289864.3:c.293A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377275.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377276.1:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016831.4:c.1247A>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Observations:

Condition(s)

Name:: Advanced sleep phase syndrome 3
Synonyms:: Advanced sleep phase syndrome, familial, 3
Identifiers:: MONDO: MONDO:0014814; MedGen: C4225169; Orphanet: 164736; OMIM: 616882

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579499	Bioinformatics dept., Datar Cancer Genetics Limited, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 23, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 26903630

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579499

Bioinformatics dept., Datar Cancer Genetics Limited, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 23, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South Asian	germline	unknown	1	not provided	not provided	not provided	not provided	clinical 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

A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.

Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptáček LJ, Fu YH.

Proc Natl Acad Sci U S A. 2016 Mar 15;113(11):E1536-44. doi: 10.1073/pnas.1600039113. Epub 2016 Feb 22.

PubMed [citation]

PMID:: 26903630
PMCID:: PMC4801303

Details of each submission

From Bioinformatics dept., Datar Cancer Genetics Limited, India, SCV000579499.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South Asian	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Apr 15, 2024

ClinVar

Relating variation to medicine