NM_024409.4(NPPC):c.257C>A (p.Ala86Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 22, 2022
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:: RCV004132733.1

Allele description [Variation Report for NM_024409.4(NPPC):c.257C>A (p.Ala86Asp)]

NM_024409.4(NPPC):c.257C>A (p.Ala86Asp)

Gene:

NPPC:natriuretic peptide C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_024409.4(NPPC):c.257C>A (p.Ala86Asp)

HGVS:

NC_000002.12:g.231925549G>T
NM_024409.4:c.257C>AMANE SELECT
NP_077720.1:p.Ala86Asp
NC_000002.11:g.232790259G>T
NM_024409.2:c.257C>A

Protein change:

A86D

Molecular consequence:

NM_024409.4:c.257C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Caenorhabditis elegans O-methyltransferase (comt-4), mRNA
Caenorhabditis elegans O-methyltransferase (comt-4), mRNA
gi|1734333317|ref|NM_071157.2|

Nucleotide
Sminthopsis macroura strain ABTC7630 12S ribosomal RNA gene, complete sequence; ...
Sminthopsis macroura strain ABTC7630 12S ribosomal RNA gene, complete sequence; mitochondrial gene for mitochondrial product
gi|18462141|gb|AF339132.1|

Nucleotide
zinc finger protein 23 isoform X6 [Mus musculus]
zinc finger protein 23 isoform X6 [Mus musculus]
gi|755526670|ref|XP_011246662.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003621290	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003621290

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 22, 2022)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003621290.2

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

Description

The c.257C>A (p.A86D) alteration is located in exon 1 (coding exon 1) of the NPPC gene. This alteration results from a C to A substitution at nucleotide position 257, causing the alanine (A) at amino acid position 86 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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