NM_198252.3(GSN):c.479A>G (p.Asn160Ser) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 27, 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:: RCV003833707.1

Allele description

NM_198252.3(GSN):c.479A>G (p.Asn160Ser)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.479A>G (p.Asn160Ser)

HGVS:

NC_000009.12:g.121310811A>G
NG_012872.2:g.114730A>G
NM_000177.5:c.632A>G
NM_001127662.2:c.479A>G
NM_001127663.2:c.587A>G
NM_001127664.2:c.479A>G
NM_001127665.2:c.479A>G
NM_001127666.2:c.512A>G
NM_001127667.2:c.512A>G
NM_001258029.2:c.530A>G
NM_001258030.2:c.503A>G
NM_001353053.1:c.479A>G
NM_001353054.1:c.479A>G
NM_001353055.2:c.479A>G
NM_001353056.2:c.479A>G
NM_001353057.2:c.479A>G
NM_001353058.2:c.479A>G
NM_001353059.2:c.479A>G
NM_001353060.2:c.479A>G
NM_001353061.2:c.479A>G
NM_001353062.1:c.479A>G
NM_001353063.2:c.512A>G
NM_001353064.2:c.512A>G
NM_001353065.2:c.512A>G
NM_001353066.2:c.512A>G
NM_001353067.2:c.512A>G
NM_001353068.2:c.512A>G
NM_001353069.2:c.512A>G
NM_001353070.2:c.512A>G
NM_001353071.2:c.512A>G
NM_001353072.2:c.512A>G
NM_001353073.2:c.512A>G
NM_001353074.2:c.512A>G
NM_001353075.1:c.512A>G
NM_001353076.2:c.551A>G
NM_001353077.1:c.512A>G
NM_001353078.2:c.-176A>G
NM_198252.3:c.479A>GMANE SELECT
NP_000168.1:p.Asn211Ser
NP_001121134.1:p.Asn160Ser
NP_001121135.2:p.Asn196Ser
NP_001121136.1:p.Asn160Ser
NP_001121137.1:p.Asn160Ser
NP_001121138.1:p.Asn171Ser
NP_001121139.1:p.Asn171Ser
NP_001244958.1:p.Asn177Ser
NP_001244959.1:p.Asn168Ser
NP_001339982.1:p.Asn160Ser
NP_001339983.1:p.Asn160Ser
NP_001339984.1:p.Asn160Ser
NP_001339985.1:p.Asn160Ser
NP_001339986.1:p.Asn160Ser
NP_001339987.1:p.Asn160Ser
NP_001339988.1:p.Asn160Ser
NP_001339989.1:p.Asn160Ser
NP_001339990.1:p.Asn160Ser
NP_001339991.1:p.Asn160Ser
NP_001339992.1:p.Asn171Ser
NP_001339993.1:p.Asn171Ser
NP_001339994.1:p.Asn171Ser
NP_001339995.1:p.Asn171Ser
NP_001339996.1:p.Asn171Ser
NP_001339997.1:p.Asn171Ser
NP_001339998.1:p.Asn171Ser
NP_001339999.1:p.Asn171Ser
NP_001340000.1:p.Asn171Ser
NP_001340001.1:p.Asn171Ser
NP_001340002.1:p.Asn171Ser
NP_001340003.1:p.Asn171Ser
NP_001340004.1:p.Asn171Ser
NP_001340005.1:p.Asn184Ser
NP_001340006.1:p.Asn171Ser
NP_937895.1:p.Asn160Ser
NC_000009.11:g.124073089A>G

Protein change:

N160S

Molecular consequence:

NM_001353078.2:c.-176A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000177.5:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127662.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127663.2:c.587A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127664.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127665.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127666.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127667.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258029.2:c.530A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258030.2:c.503A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353053.1:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353054.1:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353055.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353056.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353057.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353058.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353059.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353060.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353061.2:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353062.1:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353063.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353064.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353065.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353066.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353067.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353068.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353069.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353070.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353071.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353072.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353073.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353074.2:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353075.1:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353076.2:c.551A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353077.1:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198252.3:c.479A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004634811	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 27, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24601799, 27633054, 28139293, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004634811

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 27, 2023)

germline

clinical testing

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.

Efebera YA, Sturm A, Baack EC, Hofmeister CC, Satoskar A, Nadasdy T, Nadasdy G, Benson DM, Gillmore JD, Hawkins PN, Rowczenio D.

Amyloid. 2014 Jun;21(2):110-2. doi: 10.3109/13506129.2014.891502. Epub 2014 Mar 6.

PubMed [citation]

PMID:: 24601799
PMCID:: PMC4061150

Molecular basis of a novel renal amyloidosis due to N184K gelsolin variant.

Bonì F, Milani M, Porcari R, Barbiroli A, Ricagno S, de Rosa M.

Sci Rep. 2016 Sep 16;6:33463. doi: 10.1038/srep33463.

PubMed [citation]

PMID:: 27633054
PMCID:: PMC5025852

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004634811.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 211 of the GSN protein (p.Asn211Ser). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GSN-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GSN protein function. This variant disrupts the p.Asn211 amino acid residue in GSN. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24601799, 27633054, 28139293). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

#	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: Mar 5, 2024

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