NM_198252.3(GSN):c.80T>C (p.Leu27Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 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:: RCV003826517.2

Allele description [Variation Report for NM_198252.3(GSN):c.80T>C (p.Leu27Pro)]

NM_198252.3(GSN):c.80T>C (p.Leu27Pro)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.80T>C (p.Leu27Pro)

HGVS:

NC_000009.12:g.121302051T>C
NG_012872.2:g.105970T>C
NM_000177.5:c.233T>C
NM_001127662.2:c.80T>C
NM_001127663.2:c.188T>C
NM_001127664.2:c.80T>C
NM_001127665.2:c.80T>C
NM_001127666.2:c.113T>C
NM_001127667.2:c.113T>C
NM_001258029.2:c.131T>C
NM_001258030.2:c.104T>C
NM_001353053.1:c.80T>C
NM_001353054.1:c.80T>C
NM_001353055.2:c.80T>C
NM_001353056.2:c.80T>C
NM_001353057.2:c.80T>C
NM_001353058.2:c.80T>C
NM_001353059.2:c.80T>C
NM_001353060.2:c.80T>C
NM_001353061.2:c.80T>C
NM_001353062.1:c.80T>C
NM_001353063.2:c.113T>C
NM_001353064.2:c.113T>C
NM_001353065.2:c.113T>C
NM_001353066.2:c.113T>C
NM_001353067.2:c.113T>C
NM_001353068.2:c.113T>C
NM_001353069.2:c.113T>C
NM_001353070.2:c.113T>C
NM_001353071.2:c.113T>C
NM_001353072.2:c.113T>C
NM_001353073.2:c.113T>C
NM_001353074.2:c.113T>C
NM_001353075.1:c.113T>C
NM_001353076.2:c.152T>C
NM_001353077.1:c.113T>C
NM_001353078.2:c.-458-860T>C
NM_198252.3:c.80T>CMANE SELECT
NP_000168.1:p.Leu78Pro
NP_001121134.1:p.Leu27Pro
NP_001121135.2:p.Leu63Pro
NP_001121136.1:p.Leu27Pro
NP_001121137.1:p.Leu27Pro
NP_001121138.1:p.Leu38Pro
NP_001121139.1:p.Leu38Pro
NP_001244958.1:p.Leu44Pro
NP_001244959.1:p.Leu35Pro
NP_001339982.1:p.Leu27Pro
NP_001339983.1:p.Leu27Pro
NP_001339984.1:p.Leu27Pro
NP_001339985.1:p.Leu27Pro
NP_001339986.1:p.Leu27Pro
NP_001339987.1:p.Leu27Pro
NP_001339988.1:p.Leu27Pro
NP_001339989.1:p.Leu27Pro
NP_001339990.1:p.Leu27Pro
NP_001339991.1:p.Leu27Pro
NP_001339992.1:p.Leu38Pro
NP_001339993.1:p.Leu38Pro
NP_001339994.1:p.Leu38Pro
NP_001339995.1:p.Leu38Pro
NP_001339996.1:p.Leu38Pro
NP_001339997.1:p.Leu38Pro
NP_001339998.1:p.Leu38Pro
NP_001339999.1:p.Leu38Pro
NP_001340000.1:p.Leu38Pro
NP_001340001.1:p.Leu38Pro
NP_001340002.1:p.Leu38Pro
NP_001340003.1:p.Leu38Pro
NP_001340004.1:p.Leu38Pro
NP_001340005.1:p.Leu51Pro
NP_001340006.1:p.Leu38Pro
NP_937895.1:p.Leu27Pro
NC_000009.11:g.124064329T>C

Protein change:

L27P

Molecular consequence:

NM_001353078.2:c.-458-860T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000177.5:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127662.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127663.2:c.188T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127664.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127665.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127666.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127667.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001258029.2:c.131T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001258030.2:c.104T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353053.1:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353054.1:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353055.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353056.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353057.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353058.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353059.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353060.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353061.2:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353062.1:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353063.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353064.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353065.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353066.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353067.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353068.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353069.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353070.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353071.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353072.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353073.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353074.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353075.1:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353076.2:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353077.1:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198252.3:c.80T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus nuclear factor of activated T-cells c3 isoform IAL-deltaXa (Nfatc3)...
Mus musculus nuclear factor of activated T-cells c3 isoform IAL-deltaXa (Nfatc3) mRNA, complete cds, alternatively spliced
gi|195927975|gb|EU887627.1|

Nucleotide
Mus musculus 13 days embryo stomach cDNA, RIKEN full-length enriched library, cl...
Mus musculus 13 days embryo stomach cDNA, RIKEN full-length enriched library, clone:D530024B19 product:nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3, full insert sequence
gi|74210954|dbj|AK142470.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004625739	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 25, 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

SCV004625739

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 25, 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, SCV004625739.1

#	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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 78 of the GSN protein (p.Leu78Pro).

#	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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