NM_198252.3(GSN):c.2086G>A (p.Val696Met) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2022
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:: RCV003739877.1

Allele description

NM_198252.3(GSN):c.2086G>A (p.Val696Met)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.2086G>A (p.Val696Met)

HGVS:

NC_000009.12:g.121332493G>A
NG_012872.2:g.136412G>A
NM_000177.5:c.2239G>A
NM_001127662.2:c.2086G>A
NM_001127663.2:c.2194G>A
NM_001127664.2:c.2086G>A
NM_001127665.2:c.2086G>A
NM_001127666.2:c.2119G>A
NM_001127667.2:c.2119G>A
NM_001258029.2:c.2137G>A
NM_001258030.2:c.2110G>A
NM_001353053.1:c.2086G>A
NM_001353054.1:c.2086G>A
NM_001353055.2:c.2086G>A
NM_001353056.2:c.2086G>A
NM_001353057.2:c.2086G>A
NM_001353058.2:c.2086G>A
NM_001353059.2:c.2086G>A
NM_001353060.2:c.2086G>A
NM_001353061.2:c.2086G>A
NM_001353062.1:c.2086G>A
NM_001353063.2:c.2119G>A
NM_001353064.2:c.2119G>A
NM_001353065.2:c.2119G>A
NM_001353066.2:c.2119G>A
NM_001353067.2:c.2119G>A
NM_001353068.2:c.2119G>A
NM_001353069.2:c.2119G>A
NM_001353070.2:c.2119G>A
NM_001353071.2:c.2119G>A
NM_001353072.2:c.2119G>A
NM_001353073.2:c.2119G>A
NM_001353074.2:c.2119G>A
NM_001353075.1:c.2119G>A
NM_001353076.2:c.2158G>A
NM_001353077.1:c.2119G>A
NM_001353078.2:c.1432G>A
NM_198252.3:c.2086G>AMANE SELECT
NP_000168.1:p.Val747Met
NP_001121134.1:p.Val696Met
NP_001121135.2:p.Val732Met
NP_001121136.1:p.Val696Met
NP_001121137.1:p.Val696Met
NP_001121138.1:p.Val707Met
NP_001121139.1:p.Val707Met
NP_001244958.1:p.Val713Met
NP_001244959.1:p.Val704Met
NP_001339982.1:p.Val696Met
NP_001339983.1:p.Val696Met
NP_001339984.1:p.Val696Met
NP_001339985.1:p.Val696Met
NP_001339986.1:p.Val696Met
NP_001339987.1:p.Val696Met
NP_001339988.1:p.Val696Met
NP_001339989.1:p.Val696Met
NP_001339990.1:p.Val696Met
NP_001339991.1:p.Val696Met
NP_001339992.1:p.Val707Met
NP_001339993.1:p.Val707Met
NP_001339994.1:p.Val707Met
NP_001339995.1:p.Val707Met
NP_001339996.1:p.Val707Met
NP_001339997.1:p.Val707Met
NP_001339998.1:p.Val707Met
NP_001339999.1:p.Val707Met
NP_001340000.1:p.Val707Met
NP_001340001.1:p.Val707Met
NP_001340002.1:p.Val707Met
NP_001340003.1:p.Val707Met
NP_001340004.1:p.Val707Met
NP_001340005.1:p.Val720Met
NP_001340006.1:p.Val707Met
NP_001340007.1:p.Val478Met
NP_937895.1:p.Val696Met
NC_000009.11:g.124094771G>A

Protein change:

V478M

Molecular consequence:

NM_000177.5:c.2239G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127662.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127663.2:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127664.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127665.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127666.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127667.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258029.2:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258030.2:c.2110G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353053.1:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353054.1:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353055.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353056.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353057.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353058.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353059.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353060.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353061.2:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353062.1:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353063.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353064.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353065.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353066.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353067.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353068.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353069.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353070.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353071.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353072.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353073.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353074.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353075.1:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353076.2:c.2158G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353077.1:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353078.2:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198252.3:c.2086G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=Neurofilament light polypeptide; Short=NF-L; AltName: Full=68 kDa ...
RecName: Full=Neurofilament light polypeptide; Short=NF-L; AltName: Full=68 kDa neurofilament protein; AltName: Full=Neurofilament triplet L protein
gi|62511894|sp|P07196.3|NFL_HUMAN

Protein
Homo sapiens neurotrimin (NTM), transcript variant 12, mRNA
Homo sapiens neurotrimin (NTM), transcript variant 12, mRNA
gi|1905152993|ref|NM_001352008.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004558216	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 30, 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

SCV004558216

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 30, 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	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 Invitae, SCV004558216.1

#	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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GSN protein function. This variant has not been reported in the literature in individuals affected with GSN-related conditions. This variant is present in population databases (rs760207436, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 747 of the GSN protein (p.Val747Met).

#	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: Feb 28, 2024

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