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NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 10, 2023
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:
RCV003155074.1

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003844505Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Feb 10, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003844505.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024