NM_000603.5(NOS3):c.172C>T (p.Pro58Ser) AND Premature ovarian failure

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 2, 2020
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:: RCV001270207.1

Allele description [Variation Report for NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)]

NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)

Gene:

NOS3:nitric oxide synthase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)

HGVS:

NC_000007.14:g.150995216C>T
NG_011992.1:g.9158C>T
NM_000603.5:c.172C>TMANE SELECT
NM_001160109.2:c.172C>T
NM_001160110.1:c.172C>T
NM_001160111.1:c.172C>T
NP_000594.2:p.Pro58Ser
NP_001153581.1:p.Pro58Ser
NP_001153582.1:p.Pro58Ser
NP_001153583.1:p.Pro58Ser
NC_000007.13:g.150692304C>T

Protein change:

P58S

Links:

dbSNP: rs752309888

NCBI 1000 Genomes Browser:

rs752309888

Molecular consequence:

NM_000603.5:c.172C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001160109.2:c.172C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001160110.1:c.172C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001160111.1:c.172C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Premature ovarian failure (POF)
Synonyms:: Primary ovarian insufficiency; Primary ovarian failure
Identifiers:: MONDO: MONDO:0005387; MedGen: C0085215

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
SCV001364338	Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 2, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001364338

Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 2, 2020)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

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 Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, SCV001364338.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	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		1	not provided	not provided	not provided

Last Updated: Aug 13, 2023

ClinVar

Relating variation to medicine