NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 21, 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:: RCV003864108.2

Allele description [Variation Report for NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys)]

NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys)

HGVS:

NC_000009.12:g.121321395A>G
NG_012872.2:g.125314A>G
NM_000177.4:c.1472A>G
NM_000177.5:c.1472A>G
NM_001127662.2:c.1319A>G
NM_001127663.2:c.1427A>G
NM_001127664.2:c.1319A>G
NM_001127665.2:c.1319A>G
NM_001127666.2:c.1352A>G
NM_001127667.2:c.1352A>G
NM_001258029.2:c.1370A>G
NM_001258030.2:c.1343A>G
NM_001353053.1:c.1319A>G
NM_001353054.1:c.1319A>G
NM_001353055.2:c.1319A>G
NM_001353056.2:c.1319A>G
NM_001353057.2:c.1319A>G
NM_001353058.2:c.1319A>G
NM_001353059.2:c.1319A>G
NM_001353060.2:c.1319A>G
NM_001353061.2:c.1319A>G
NM_001353062.1:c.1319A>G
NM_001353063.2:c.1352A>G
NM_001353064.2:c.1352A>G
NM_001353065.2:c.1352A>G
NM_001353066.2:c.1352A>G
NM_001353067.2:c.1352A>G
NM_001353068.2:c.1352A>G
NM_001353069.2:c.1352A>G
NM_001353070.2:c.1352A>G
NM_001353071.2:c.1352A>G
NM_001353072.2:c.1352A>G
NM_001353073.2:c.1352A>G
NM_001353074.2:c.1352A>G
NM_001353075.1:c.1352A>G
NM_001353076.2:c.1391A>G
NM_001353077.1:c.1352A>G
NM_001353078.2:c.665A>G
NM_198252.3:c.1319A>GMANE SELECT
NP_000168.1:p.Tyr491Cys
NP_001121134.1:p.Tyr440Cys
NP_001121135.2:p.Tyr476Cys
NP_001121136.1:p.Tyr440Cys
NP_001121137.1:p.Tyr440Cys
NP_001121138.1:p.Tyr451Cys
NP_001121139.1:p.Tyr451Cys
NP_001244958.1:p.Tyr457Cys
NP_001244959.1:p.Tyr448Cys
NP_001339982.1:p.Tyr440Cys
NP_001339983.1:p.Tyr440Cys
NP_001339984.1:p.Tyr440Cys
NP_001339985.1:p.Tyr440Cys
NP_001339986.1:p.Tyr440Cys
NP_001339987.1:p.Tyr440Cys
NP_001339988.1:p.Tyr440Cys
NP_001339989.1:p.Tyr440Cys
NP_001339990.1:p.Tyr440Cys
NP_001339991.1:p.Tyr440Cys
NP_001339992.1:p.Tyr451Cys
NP_001339993.1:p.Tyr451Cys
NP_001339994.1:p.Tyr451Cys
NP_001339995.1:p.Tyr451Cys
NP_001339996.1:p.Tyr451Cys
NP_001339997.1:p.Tyr451Cys
NP_001339998.1:p.Tyr451Cys
NP_001339999.1:p.Tyr451Cys
NP_001340000.1:p.Tyr451Cys
NP_001340001.1:p.Tyr451Cys
NP_001340002.1:p.Tyr451Cys
NP_001340003.1:p.Tyr451Cys
NP_001340004.1:p.Tyr451Cys
NP_001340005.1:p.Tyr464Cys
NP_001340006.1:p.Tyr451Cys
NP_001340007.1:p.Tyr222Cys
NP_937895.1:p.Tyr440Cys
NC_000009.11:g.124083673A>G

Protein change:

Y222C

Molecular consequence:

NM_000177.5:c.1472A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127662.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127663.2:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127664.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127665.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127666.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127667.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258029.2:c.1370A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258030.2:c.1343A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353053.1:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353054.1:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353055.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353056.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353057.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353058.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353059.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353060.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353061.2:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353062.1:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353063.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353064.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353065.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353066.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353067.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353068.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353069.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353070.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353071.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353072.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353073.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353074.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353075.1:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353076.2:c.1391A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353077.1:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353078.2:c.665A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198252.3:c.1319A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004668006	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 21, 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

SCV004668006

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 21, 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, SCV004668006.1

#	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 tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 491 of the GSN protein (p.Tyr491Cys). This variant is not present in population databases (gnomAD no frequency). 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 with a positive predictive value of 80%. 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

ClinVar

Relating variation to medicine