NM_003995.4(NPR2):c.1393_1396del (p.Ile465fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 10, 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:: RCV000331647.4

Allele description [Variation Report for NM_003995.4(NPR2):c.1393_1396del (p.Ile465fs)]

NM_003995.4(NPR2):c.1393_1396del (p.Ile465fs)

Gene:

NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_003995.4(NPR2):c.1393_1396del (p.Ile465fs)

HGVS:

NC_000009.12:g.35801111_35801114del
NG_009249.1:g.13703_13706del
NM_001378923.1:c.1393_1396del
NM_003995.4:c.1393_1396delMANE SELECT
NP_001365852.1:p.Ile465fs
NP_003986.2:p.Ile465fs
NC_000009.11:g.35801108_35801111del

Protein change:

I465fs

Links:

dbSNP: rs886042851

NCBI 1000 Genomes Browser:

rs886042851

Molecular consequence:

NM_001378923.1:c.1393_1396del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003995.4:c.1393_1396del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000336965	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Nov 10, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000336965

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Nov 10, 2015)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000336965.4

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

#	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 1, 2023

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