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NM_006172.4(NPPA):c.279T>G (p.Asp93Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 5, 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:
RCV000522731.1

Allele description [Variation Report for NM_006172.4(NPPA):c.279T>G (p.Asp93Glu)]

NM_006172.4(NPPA):c.279T>G (p.Asp93Glu)

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.279T>G (p.Asp93Glu)
HGVS:
  • NC_000001.11:g.11847284A>C
  • NG_012926.1:g.5500T>G
  • NG_065183.1:g.566A>C
  • NM_006172.4:c.279T>GMANE SELECT
  • NP_006163.1:p.Asp93Glu
  • LRG_751t1:c.279T>G
  • LRG_751:g.5500T>G
  • NC_000001.10:g.11907341A>C
  • NM_006172.3:c.279T>G
Protein change:
D93E
Links:
dbSNP: rs148193368
NCBI 1000 Genomes Browser:
rs148193368
Molecular consequence:
  • NM_006172.4:c.279T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000617321GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 5, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000617321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The D93E variant in the NPPA gene has been reported previously in one individual with early-onset lone atrial fibrillation, though gender and extended phenotype data were not included (Olesen et al., 2014). The D93E variant is observed in 36/65,778 (0.05%) alleles from individuals of European (Non-Finnish) background, with no homozygous control individuals reported, in the ExAC dataset (Lek et al., 2016). The D93E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Glutamic acid are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret D93E as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024