NM_198252.3(GSN):c.431G>A (p.Arg144Gln) AND Meretoja syndrome

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Sep 3, 2021
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:: RCV002507872.2

Allele description [Variation Report for NM_198252.3(GSN):c.431G>A (p.Arg144Gln)]

NM_198252.3(GSN):c.431G>A (p.Arg144Gln)

Gene:

GSN:gelsolin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

Preferred name:

NM_198252.3(GSN):c.431G>A (p.Arg144Gln)

HGVS:

NC_000009.12:g.121310763G>A
NG_012872.2:g.114682G>A
NM_000177.5:c.584G>A
NM_001127662.2:c.431G>A
NM_001127663.2:c.539G>A
NM_001127664.2:c.431G>A
NM_001127665.2:c.431G>A
NM_001127666.2:c.464G>A
NM_001127667.2:c.464G>A
NM_001258029.2:c.482G>A
NM_001258030.2:c.455G>A
NM_001353053.1:c.431G>A
NM_001353054.1:c.431G>A
NM_001353055.2:c.431G>A
NM_001353056.2:c.431G>A
NM_001353057.2:c.431G>A
NM_001353058.2:c.431G>A
NM_001353059.2:c.431G>A
NM_001353060.2:c.431G>A
NM_001353061.2:c.431G>A
NM_001353062.1:c.431G>A
NM_001353063.2:c.464G>A
NM_001353064.2:c.464G>A
NM_001353065.2:c.464G>A
NM_001353066.2:c.464G>A
NM_001353067.2:c.464G>A
NM_001353068.2:c.464G>A
NM_001353069.2:c.464G>A
NM_001353070.2:c.464G>A
NM_001353071.2:c.464G>A
NM_001353072.2:c.464G>A
NM_001353073.2:c.464G>A
NM_001353074.2:c.464G>A
NM_001353075.1:c.464G>A
NM_001353076.2:c.503G>A
NM_001353077.1:c.464G>A
NM_001353078.2:c.-224G>A
NM_198252.3:c.431G>AMANE SELECT
NP_000168.1:p.Arg195Gln
NP_001121134.1:p.Arg144Gln
NP_001121135.2:p.Arg180Gln
NP_001121136.1:p.Arg144Gln
NP_001121137.1:p.Arg144Gln
NP_001121138.1:p.Arg155Gln
NP_001121139.1:p.Arg155Gln
NP_001244958.1:p.Arg161Gln
NP_001244959.1:p.Arg152Gln
NP_001339982.1:p.Arg144Gln
NP_001339983.1:p.Arg144Gln
NP_001339984.1:p.Arg144Gln
NP_001339985.1:p.Arg144Gln
NP_001339986.1:p.Arg144Gln
NP_001339987.1:p.Arg144Gln
NP_001339988.1:p.Arg144Gln
NP_001339989.1:p.Arg144Gln
NP_001339990.1:p.Arg144Gln
NP_001339991.1:p.Arg144Gln
NP_001339992.1:p.Arg155Gln
NP_001339993.1:p.Arg155Gln
NP_001339994.1:p.Arg155Gln
NP_001339995.1:p.Arg155Gln
NP_001339996.1:p.Arg155Gln
NP_001339997.1:p.Arg155Gln
NP_001339998.1:p.Arg155Gln
NP_001339999.1:p.Arg155Gln
NP_001340000.1:p.Arg155Gln
NP_001340001.1:p.Arg155Gln
NP_001340002.1:p.Arg155Gln
NP_001340003.1:p.Arg155Gln
NP_001340004.1:p.Arg155Gln
NP_001340005.1:p.Arg168Gln
NP_001340006.1:p.Arg155Gln
NP_937895.1:p.Arg144Gln
NC_000009.11:g.124073041G>A
NM_000177.4:c.584G>A
NM_000177.5:c.584G>A

Protein change:

R144Q

Links:

dbSNP: rs144099356

NCBI 1000 Genomes Browser:

rs144099356

Molecular consequence:

NM_001353078.2:c.-224G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000177.5:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127662.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127663.2:c.539G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127664.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127665.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127666.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127667.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258029.2:c.482G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258030.2:c.455G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353053.1:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353054.1:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353055.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353056.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353057.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353058.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353059.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353060.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353061.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353062.1:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353063.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353064.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353065.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353066.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353067.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353068.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353069.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353070.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353071.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353072.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353073.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353074.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353075.1:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353076.2:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353077.1:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198252.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Meretoja syndrome
Synonyms:: Lattice corneal dystrophy associated with familial systemic amyloidosis; Meretoja's syndrome; Lattice dystrophy of the cornea with hereditary generalized amyloidosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007097; MedGen: C1622345; Orphanet: 85448; OMIM: 105120

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002810715	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 3, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004012088	Department of Traditional Chinese Medicine, Fujian Provincial Hospital	no assertion criteria provided	Pathogenic	de novo	research	PubMed (2) [See all records that cite these PMIDs] 22938848, 29069428

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002810715

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 3, 2021)

unknown

clinical testing

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

SCV004012088

Department of Traditional Chinese Medicine, Fujian Provincial Hospital

no assertion criteria provided

Pathogenic

de novo

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	de novo	no	not provided	not provided	not provided	not provided	not provided	research

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

Renal amyloidosis associated with a novel sequence variant of gelsolin.

Sethi S, Theis JD, Quint P, Maierhofer W, Kurtin PJ, Dogan A, Highsmith EW Jr.

Am J Kidney Dis. 2013 Jan;61(1):161-6. doi: 10.1053/j.ajkd.2012.07.016. Epub 2012 Aug 30.

PubMed [citation]

PMID:: 22938848

See all PubMed Citations (3)

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002810715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Traditional Chinese Medicine, Fujian Provincial Hospital, SCV004012088.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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