NM_024409.4(NPPC):c.365G>A (p.Ser122Asn) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 27, 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:: RCV003030284.3

Allele description [Variation Report for NM_024409.4(NPPC):c.365G>A (p.Ser122Asn)]

NM_024409.4(NPPC):c.365G>A (p.Ser122Asn)

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.365G>A (p.Ser122Asn)

HGVS:

NC_000002.12:g.231925441C>T
NM_024409.4:c.365G>AMANE SELECT
NP_077720.1:p.Ser122Asn
NC_000002.11:g.232790151C>T

Protein change:

S122N

Molecular consequence:

NM_024409.4:c.365G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens long intergenic non-protein coding RNA 570 (LINC00570), long non-co...
Homo sapiens long intergenic non-protein coding RNA 570 (LINC00570), long non-coding RNA
gi|387598079|ref|NR_047499.1|

Nucleotide
Phaeosphaeriopsis sp. ZJLQ157 18S ribosomal RNA gene, partial sequence; internal...
Phaeosphaeriopsis sp. ZJLQ157 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|532165143|gb|KC345718.1|

Nucleotide
HER3 protein precursor [Homo sapiens]
HER3 protein precursor [Homo sapiens]
gi|306841|gb|AAA35979.1|

Protein
RecName: Full=FHF complex subunit HOOK-interacting protein 1B; AltName: Full=FTS...
RecName: Full=FHF complex subunit HOOK-interacting protein 1B; AltName: Full=FTS- and Hook-interacting protein; Short=FHIP
gi|116243085|sp|Q3U2I3.2|FHI1B_MOUS

Protein
7131_7126
7131_7126

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003337453	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 27, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003337453

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 27, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003337453.2

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

Description

This variant has not been reported in the literature in individuals affected with NPPC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 122 of the NPPC protein (p.Ser122Asn). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available").

#	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: Sep 29, 2024

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