NM_198252.3(GSN):c.616C>T (p.Arg206Ter) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 2, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001508266.7

Allele description [Variation Report for NM_198252.3(GSN):c.616C>T (p.Arg206Ter)]

NM_198252.3(GSN):c.616C>T (p.Arg206Ter)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.616C>T (p.Arg206Ter)

HGVS:

NC_000009.12:g.121312441C>T
NG_012872.2:g.116360C>T
NM_000177.5:c.769C>T
NM_001127662.2:c.616C>T
NM_001127663.2:c.724C>T
NM_001127664.2:c.616C>T
NM_001127665.2:c.616C>T
NM_001127666.2:c.649C>T
NM_001127667.2:c.649C>T
NM_001258029.2:c.667C>T
NM_001258030.2:c.640C>T
NM_001353053.1:c.616C>T
NM_001353054.1:c.616C>T
NM_001353055.2:c.616C>T
NM_001353056.2:c.616C>T
NM_001353057.2:c.616C>T
NM_001353058.2:c.616C>T
NM_001353059.2:c.616C>T
NM_001353060.2:c.616C>T
NM_001353061.2:c.616C>T
NM_001353062.1:c.616C>T
NM_001353063.2:c.649C>T
NM_001353064.2:c.649C>T
NM_001353065.2:c.649C>T
NM_001353066.2:c.649C>T
NM_001353067.2:c.649C>T
NM_001353068.2:c.649C>T
NM_001353069.2:c.649C>T
NM_001353070.2:c.649C>T
NM_001353071.2:c.649C>T
NM_001353072.2:c.649C>T
NM_001353073.2:c.649C>T
NM_001353074.2:c.649C>T
NM_001353075.1:c.649C>T
NM_001353076.2:c.688C>T
NM_001353077.1:c.649C>T
NM_001353078.2:c.-39C>T
NM_198252.3:c.616C>TMANE SELECT
NP_000168.1:p.Arg257Ter
NP_001121134.1:p.Arg206Ter
NP_001121135.2:p.Arg242Ter
NP_001121136.1:p.Arg206Ter
NP_001121137.1:p.Arg206Ter
NP_001121138.1:p.Arg217Ter
NP_001121139.1:p.Arg217Ter
NP_001244958.1:p.Arg223Ter
NP_001244959.1:p.Arg214Ter
NP_001339982.1:p.Arg206Ter
NP_001339983.1:p.Arg206Ter
NP_001339984.1:p.Arg206Ter
NP_001339985.1:p.Arg206Ter
NP_001339986.1:p.Arg206Ter
NP_001339987.1:p.Arg206Ter
NP_001339988.1:p.Arg206Ter
NP_001339989.1:p.Arg206Ter
NP_001339990.1:p.Arg206Ter
NP_001339991.1:p.Arg206Ter
NP_001339992.1:p.Arg217Ter
NP_001339993.1:p.Arg217Ter
NP_001339994.1:p.Arg217Ter
NP_001339995.1:p.Arg217Ter
NP_001339996.1:p.Arg217Ter
NP_001339997.1:p.Arg217Ter
NP_001339998.1:p.Arg217Ter
NP_001339999.1:p.Arg217Ter
NP_001340000.1:p.Arg217Ter
NP_001340001.1:p.Arg217Ter
NP_001340002.1:p.Arg217Ter
NP_001340003.1:p.Arg217Ter
NP_001340004.1:p.Arg217Ter
NP_001340005.1:p.Arg230Ter
NP_001340006.1:p.Arg217Ter
NP_937895.1:p.Arg206Ter
NC_000009.11:g.124074719C>T
NM_000177.4:c.769C>T
p.Arg257*

Protein change:

R206*

Links:

dbSNP: rs376060588

NCBI 1000 Genomes Browser:

rs376060588

Molecular consequence:

NM_001353078.2:c.-39C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000177.5:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127662.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127663.2:c.724C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127664.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127665.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127666.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127667.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258029.2:c.667C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001258030.2:c.640C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353053.1:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353054.1:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353055.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353056.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353057.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353058.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353059.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353060.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353061.2:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353062.1:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353063.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353064.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353065.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353066.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353067.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353068.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353069.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353070.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353071.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353072.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353073.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353074.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353075.1:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353076.2:c.688C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001353077.1:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_198252.3:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV001714313	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 24, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002288042	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 2, 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

SCV001714313

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 24, 2019)

germline

clinical testing

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

SCV002288042

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 2, 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	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

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 Mayo Clinic Laboratories, Mayo Clinic, SCV001714313.1

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

#	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		1	not provided	not provided	not provided

From Invitae, SCV002288042.2

#	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 creates a premature translational stop signal (p.Arg257*) in the GSN gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GSN cause disease. This variant is present in population databases (rs376060588, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163312). 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: Jun 2, 2024

ClinVar

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