NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr) AND Amyloidosis, primary localized cutaneous, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000008251.2

Allele description [Variation Report for NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)]

NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)

Gene:

OSMR:oncostatin M receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.1

Genomic location:

Preferred name:

NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)

HGVS:

NC_000005.10:g.38925231T>C
NG_016236.1:g.84374T>C
NM_001323505.2:c.2072T>C
NM_001323506.2:c.2075T>C
NM_003999.3:c.2072T>CMANE SELECT
NP_001310434.1:p.Ile691Thr
NP_001310435.1:p.Ile692Thr
NP_003990.1:p.Ile691Thr
NC_000005.9:g.38925333T>C
Q99650:p.Ile691Thr

Protein change:

I691T; ILE691THR

Links:

UniProtKB: Q99650#VAR_043514; OMIM: 601743.0001; dbSNP: rs63750567

NCBI 1000 Genomes Browser:

rs63750567

Molecular consequence:

NM_001323505.2:c.2072T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323506.2:c.2075T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003999.3:c.2072T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Amyloidosis, primary localized cutaneous, 1
Synonyms:: Lichen amyloidosis familial; Amyloidosis 9; Amyloidosis IX; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0024522; MedGen: C4551501; Orphanet: 353220; OMIM: 105250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028458	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028458

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2008)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR, Holder MV, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA.

Am J Hum Genet. 2008 Jan;82(1):73-80. doi: 10.1016/j.ajhg.2007.09.002.

PubMed [citation]

PMID:: 18179886
PMCID:: PMC2253984

Details of each submission

From OMIM, SCV000028458.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an extensively affected Brazilian pedigree with primary localized cutaneous amyloidosis (105250), Arita et al. (2008) identified a heterozygous 2072T-C transition in the OSMR gene resulting in an ile691-to-thr substitution (I691T) in all affected but no unaffected members.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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