NM_198252.3(GSN):c.1669A>G (p.Thr557Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 26, 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:: RCV003848255.2

Allele description [Variation Report for NM_198252.3(GSN):c.1669A>G (p.Thr557Ala)]

NM_198252.3(GSN):c.1669A>G (p.Thr557Ala)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.1669A>G (p.Thr557Ala)

HGVS:

NC_000009.12:g.121327389A>G
NG_012872.2:g.131308A>G
NG_117288.1:g.465A>G
NM_000177.5:c.1822A>G
NM_001127662.2:c.1669A>G
NM_001127663.2:c.1777A>G
NM_001127664.2:c.1669A>G
NM_001127665.2:c.1669A>G
NM_001127666.2:c.1702A>G
NM_001127667.2:c.1702A>G
NM_001258029.2:c.1720A>G
NM_001258030.2:c.1693A>G
NM_001353053.1:c.1669A>G
NM_001353054.1:c.1669A>G
NM_001353055.2:c.1669A>G
NM_001353056.2:c.1669A>G
NM_001353057.2:c.1669A>G
NM_001353058.2:c.1669A>G
NM_001353059.2:c.1669A>G
NM_001353060.2:c.1669A>G
NM_001353061.2:c.1669A>G
NM_001353062.1:c.1669A>G
NM_001353063.2:c.1702A>G
NM_001353064.2:c.1702A>G
NM_001353065.2:c.1702A>G
NM_001353066.2:c.1702A>G
NM_001353067.2:c.1702A>G
NM_001353068.2:c.1702A>G
NM_001353069.2:c.1702A>G
NM_001353070.2:c.1702A>G
NM_001353071.2:c.1702A>G
NM_001353072.2:c.1702A>G
NM_001353073.2:c.1702A>G
NM_001353074.2:c.1702A>G
NM_001353075.1:c.1702A>G
NM_001353076.2:c.1741A>G
NM_001353077.1:c.1702A>G
NM_001353078.2:c.1015A>G
NM_198252.3:c.1669A>GMANE SELECT
NP_000168.1:p.Thr608Ala
NP_001121134.1:p.Thr557Ala
NP_001121135.2:p.Thr593Ala
NP_001121136.1:p.Thr557Ala
NP_001121137.1:p.Thr557Ala
NP_001121138.1:p.Thr568Ala
NP_001121139.1:p.Thr568Ala
NP_001244958.1:p.Thr574Ala
NP_001244959.1:p.Thr565Ala
NP_001339982.1:p.Thr557Ala
NP_001339983.1:p.Thr557Ala
NP_001339984.1:p.Thr557Ala
NP_001339985.1:p.Thr557Ala
NP_001339986.1:p.Thr557Ala
NP_001339987.1:p.Thr557Ala
NP_001339988.1:p.Thr557Ala
NP_001339989.1:p.Thr557Ala
NP_001339990.1:p.Thr557Ala
NP_001339991.1:p.Thr557Ala
NP_001339992.1:p.Thr568Ala
NP_001339993.1:p.Thr568Ala
NP_001339994.1:p.Thr568Ala
NP_001339995.1:p.Thr568Ala
NP_001339996.1:p.Thr568Ala
NP_001339997.1:p.Thr568Ala
NP_001339998.1:p.Thr568Ala
NP_001339999.1:p.Thr568Ala
NP_001340000.1:p.Thr568Ala
NP_001340001.1:p.Thr568Ala
NP_001340002.1:p.Thr568Ala
NP_001340003.1:p.Thr568Ala
NP_001340004.1:p.Thr568Ala
NP_001340005.1:p.Thr581Ala
NP_001340006.1:p.Thr568Ala
NP_001340007.1:p.Thr339Ala
NP_937895.1:p.Thr557Ala
NC_000009.11:g.124089667A>G

Protein change:

T339A

Molecular consequence:

NM_000177.5:c.1822A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127662.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127663.2:c.1777A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127664.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127665.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127666.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127667.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258029.2:c.1720A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258030.2:c.1693A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353053.1:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353054.1:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353055.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353056.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353057.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353058.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353059.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353060.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353061.2:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353062.1:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353063.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353064.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353065.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353066.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353067.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353068.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353069.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353070.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353071.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353072.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353073.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353074.2:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353075.1:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353076.2:c.1741A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353077.1:c.1702A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353078.2:c.1015A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198252.3:c.1669A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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ag69g01.s1 Gessler Wilms tumor Homo sapiens cDNA clone IMAGE:1128240 3', mRNA se...
ag69g01.s1 Gessler Wilms tumor Homo sapiens cDNA clone IMAGE:1128240 3', mRNA sequence
gi|2620588|gnl|dbEST|1371494|gb|AA6 .1|

Nucleotide
LOC127814691 [Homo sapiens]
LOC127814691 [Homo sapiens]
Gene ID:127814691

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004693458	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 26, 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

SCV004693458

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 26, 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, SCV004693458.1

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

Description

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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with GSN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 608 of the GSN protein (p.Thr608Ala).

#	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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