NM_198252.3(GSN):c.2068C>T (p.Arg690Trp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 17, 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:: RCV003721620.2

Allele description [Variation Report for NM_198252.3(GSN):c.2068C>T (p.Arg690Trp)]

NM_198252.3(GSN):c.2068C>T (p.Arg690Trp)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.2068C>T (p.Arg690Trp)

HGVS:

NC_000009.12:g.121332475C>T
NG_012872.2:g.136394C>T
NM_000177.5:c.2221C>T
NM_001127662.2:c.2068C>T
NM_001127663.2:c.2176C>T
NM_001127664.2:c.2068C>T
NM_001127665.2:c.2068C>T
NM_001127666.2:c.2101C>T
NM_001127667.2:c.2101C>T
NM_001258029.2:c.2119C>T
NM_001258030.2:c.2092C>T
NM_001353053.1:c.2068C>T
NM_001353054.1:c.2068C>T
NM_001353055.2:c.2068C>T
NM_001353056.2:c.2068C>T
NM_001353057.2:c.2068C>T
NM_001353058.2:c.2068C>T
NM_001353059.2:c.2068C>T
NM_001353060.2:c.2068C>T
NM_001353061.2:c.2068C>T
NM_001353062.1:c.2068C>T
NM_001353063.2:c.2101C>T
NM_001353064.2:c.2101C>T
NM_001353065.2:c.2101C>T
NM_001353066.2:c.2101C>T
NM_001353067.2:c.2101C>T
NM_001353068.2:c.2101C>T
NM_001353069.2:c.2101C>T
NM_001353070.2:c.2101C>T
NM_001353071.2:c.2101C>T
NM_001353072.2:c.2101C>T
NM_001353073.2:c.2101C>T
NM_001353074.2:c.2101C>T
NM_001353075.1:c.2101C>T
NM_001353076.2:c.2140C>T
NM_001353077.1:c.2101C>T
NM_001353078.2:c.1414C>T
NM_198252.3:c.2068C>TMANE SELECT
NP_000168.1:p.Arg741Trp
NP_001121134.1:p.Arg690Trp
NP_001121135.2:p.Arg726Trp
NP_001121136.1:p.Arg690Trp
NP_001121137.1:p.Arg690Trp
NP_001121138.1:p.Arg701Trp
NP_001121139.1:p.Arg701Trp
NP_001244958.1:p.Arg707Trp
NP_001244959.1:p.Arg698Trp
NP_001339982.1:p.Arg690Trp
NP_001339983.1:p.Arg690Trp
NP_001339984.1:p.Arg690Trp
NP_001339985.1:p.Arg690Trp
NP_001339986.1:p.Arg690Trp
NP_001339987.1:p.Arg690Trp
NP_001339988.1:p.Arg690Trp
NP_001339989.1:p.Arg690Trp
NP_001339990.1:p.Arg690Trp
NP_001339991.1:p.Arg690Trp
NP_001339992.1:p.Arg701Trp
NP_001339993.1:p.Arg701Trp
NP_001339994.1:p.Arg701Trp
NP_001339995.1:p.Arg701Trp
NP_001339996.1:p.Arg701Trp
NP_001339997.1:p.Arg701Trp
NP_001339998.1:p.Arg701Trp
NP_001339999.1:p.Arg701Trp
NP_001340000.1:p.Arg701Trp
NP_001340001.1:p.Arg701Trp
NP_001340002.1:p.Arg701Trp
NP_001340003.1:p.Arg701Trp
NP_001340004.1:p.Arg701Trp
NP_001340005.1:p.Arg714Trp
NP_001340006.1:p.Arg701Trp
NP_001340007.1:p.Arg472Trp
NP_937895.1:p.Arg690Trp
NC_000009.11:g.124094753C>T

Protein change:

R472W

Molecular consequence:

NM_000177.5:c.2221C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127662.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127663.2:c.2176C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127664.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127665.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127666.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127667.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001258029.2:c.2119C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001258030.2:c.2092C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353053.1:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353054.1:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353055.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353056.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353057.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353058.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353059.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353060.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353061.2:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353062.1:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353063.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353064.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353065.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353066.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353067.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353068.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353069.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353070.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353071.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353072.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353073.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353074.2:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353075.1:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353076.2:c.2140C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353077.1:c.2101C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353078.2:c.1414C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198252.3:c.2068C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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MULTISPECIES: 50S ribosomal protein L2 [Bacillus]
MULTISPECIES: 50S ribosomal protein L2 [Bacillus]
gi|489318443|ref|WP_003225795.1|

Protein
Homo sapiens mitochondrial fission process 1 (MTFP1), transcript variant 2, mRNA...
Homo sapiens mitochondrial fission process 1 (MTFP1), transcript variant 2, mRNA; nuclear gene for mitochondrial product
gi|1676318588|ref|NM_001003704.3|

Nucleotide
PREDICTED: Homo sapiens NOVA alternative splicing regulator 2 (NOVA2), transcrip...
PREDICTED: Homo sapiens NOVA alternative splicing regulator 2 (NOVA2), transcript variant X1, mRNA
gi|2217321423|ref|XM_006723230.4|

Nucleotide
Model organism or animal sample from Gasterosteus wheatlandi
Model organism or animal sample from Gasterosteus wheatlandi

biosample
MULTISPECIES: ATP-dependent protease ATP-binding subunit ClpC [Bacillus]
MULTISPECIES: ATP-dependent protease ATP-binding subunit ClpC [Bacillus]
gi|504288490|ref|WP_014475592.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004507532	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 17, 2023)	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

SCV004507532

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 17, 2023)

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, SCV004507532.1

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

Description

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 741 of the GSN protein (p.Arg741Trp). This variant is present in population databases (rs546941257, gnomAD 0.01%). 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 expected to disrupt GSN protein function. 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: Sep 29, 2024

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