NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) AND Atrial standstill 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000114740.3

Allele description [Variation Report for NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)]

NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)

Genes:

NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
LOC114827827:VISTA enhancer hs2123 [Gene]
NPPA:natriuretic peptide A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

Preferred name:

NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)

HGVS:

NC_000001.11:g.11847114C>T
NG_012926.1:g.5670G>A
NG_065183.1:g.396C>T
NM_006172.4:c.449G>AMANE SELECT
NP_006163.1:p.Arg150Gln
LRG_751t1:c.449G>A
LRG_751:g.5670G>A
NC_000001.10:g.11907171C>T
NM_006172.3:c.449G>A

Protein change:

R150Q; ARG150GLN

Links:

OMIM: 108780.0003; dbSNP: rs202102042

NCBI 1000 Genomes Browser:

rs202102042

Molecular consequence:

NM_006172.4:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Atrial standstill 2 (ATRST2)
Synonyms:: ATRIAL DILATION AND STANDSTILL; CARDIOMYOPATHY, ATRIAL DILATED, WITH ATRIAL STANDSTILL
Identifiers:: MONDO: MONDO:0014329; MedGen: C3810401; Orphanet: 1344; OMIM: 615745

Recent activity

Clear Turn Off Turn On

PREDICTED: Rattus norvegicus secretion regulating guanine nucleotide exchange fa...
PREDICTED: Rattus norvegicus secretion regulating guanine nucleotide exchange factor (Sergef), transcript variant X3, mRNA
gi|1958653294|ref|XM_039100958.1|

Nucleotide
Opisthocomus hoazin phosphoenolpyruvate carboxykinase (PEPCK) gene, exon 9, intr...
Opisthocomus hoazin phosphoenolpyruvate carboxykinase (PEPCK) gene, exon 9, intron 9, exon 10 and partial cds
gi|33637027|gb|AY274108.1|

Nucleotide
Breast carcinoma by gene expression profile
Breast carcinoma by gene expression profile

MedGen
Shaw Potassium Channels
Shaw Potassium Channels
A shaker subfamily that is prominently expressed in NEURONS and are necessary for high-frequency, repetitive firing of ACTION POTENTIALS.<br/>Year introduced: 2006(1994)

MeSH
Copulation
Copulation
Sexual union of a male and a female in non-human species.<br/>Year introduced: 1975

MeSH

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
SCV000148623	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2013)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 6225642, 23275345

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148623

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2013)

germline

literature only

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Familial endemic persistent atrial standstill in a small mountain community: review of eight cases.

Disertori M, Guarnerio M, Vergara G, Del Favero A, Bettini R, Inama G, Rubertelli M, Furlanello F.

Eur Heart J. 1983 May;4(5):354-61.

PubMed [citation]

PMID:: 6225642

Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A.

Disertori M, Quintarelli S, Grasso M, Pilotto A, Narula N, Favalli V, Canclini C, Diegoli M, Mazzola S, Marini M, Del Greco M, Bonmassari R, Masè M, Ravelli F, Specchia C, Arbustini E.

Circ Cardiovasc Genet. 2013 Feb;6(1):27-36. doi: 10.1161/CIRCGENETICS.112.963520. Epub 2012 Dec 29.

PubMed [citation]

PMID:: 23275345

Details of each submission

From OMIM, SCV000148623.2

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

Description

In affected individuals with atrial standstill (ATRST2; 615745) and atrial dilation from 6 families within a small community in northeastern Italy, 3 of which were originally reported by Disertori et al. (1983), Disertori et al. (2013) identified homozygosity for a c.449G-A transition in exon 2 of the NPPA gene, resulting in an arg150-to-gln (R150Q) substitution at a highly conserved residue in the preproANP. The mutation segregated with disease in each family and was present in heterozygosity in 16 of 192 healthy controls from the same geographic area; however, it was not found in 200 randomly selected Italian controls.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine