NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala) AND Non-obstructive azoospermia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 1, 2015
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:: RCV000234891.1

Allele description [Variation Report for NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala)]

NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala)

Genes:

NPAS2-AS1:NPAS2 antisense RNA 1 [Gene - HGNC]
NPAS2:neuronal PAS domain protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

Preferred name:

NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala)

HGVS:

NC_000002.12:g.100975538C>G
NG_023259.1:g.160388C>G
NM_002518.4:c.1363C>GMANE SELECT
NP_002509.2:p.Pro455Ala
NC_000002.11:g.101592000C>G
NM_002518.3:c.1363C>G

Protein change:

P455A

Links:

dbSNP: rs879253743

NCBI 1000 Genomes Browser:

rs879253743

Molecular consequence:

NM_002518.4:c.1363C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Non-obstructive azoospermia
Identifiers:: MedGen: C4021107; Human Phenotype Ontology: HP:0011961

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000291979	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Ramasamy et al. (Fertil Steril. 2015))	Likely pathogenic (Aug 1, 2015)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000291979

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Ramasamy et al. (Fertil Steril. 2015))

Likely pathogenic
(Aug 1, 2015)

inherited

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	inherited	yes	3	1	not provided	not provided	not provided	research
not provided	inherited	no	2	not provided	not provided	not provided	not provided	research

Citations

PubMed

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

Ramasamy R, Bakırcıoğlu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ.

Fertil Steril. 2015 Aug;104(2):286-91. doi: 10.1016/j.fertnstert.2015.04.001. Epub 2015 May 5.

PubMed [citation]

PMID:: 25956372
PMCID:: PMC4522373

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000291979.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	research	PubMed (1)
2	not provided	2	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		3	not provided	1	not provided
2	inherited	no	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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