U.S. flag

An official website of the United States government

NM_003999.3(OSMR):c.1940A>T (p.Asp647Val) AND Amyloidosis, primary localized cutaneous, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2010
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:
RCV000023143.3

Allele description [Variation Report for NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)]

NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)

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.1940A>T (p.Asp647Val)
HGVS:
  • NC_000005.10:g.38924491A>T
  • NG_016236.1:g.83634A>T
  • NM_001323505.2:c.1940A>T
  • NM_001323506.2:c.1943A>T
  • NM_003999.3:c.1940A>TMANE SELECT
  • NP_001310434.1:p.Asp647Val
  • NP_001310435.1:p.Asp648Val
  • NP_003990.1:p.Asp647Val
  • NC_000005.9:g.38924593A>T
  • Q99650:p.Asp647Val
Protein change:
D647V; ASP647VAL
Links:
UniProtKB: Q99650#VAR_065810; OMIM: 601743.0003; dbSNP: rs387906821
NCBI 1000 Genomes Browser:
rs387906821
Molecular consequence:
  • NM_001323505.2:c.1940A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323506.2:c.1943A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003999.3:c.1940A>T - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044434OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.

Lin MW, Lee DD, Liu TT, Lin YF, Chen SY, Huang CC, Weng HY, Liu YF, Tanaka A, Arita K, Lai-Cheong J, Palisson F, Chang YT, Wong CK, Matsuura I, McGrath JA, Tsai SF.

Eur J Hum Genet. 2010 Jan;18(1):26-32. doi: 10.1038/ejhg.2009.135.

PubMed [citation]
PMID:
19690585
PMCID:
PMC2987153

Details of each submission

From OMIM, SCV000044434.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a Taiwanese family segregating primary localized cutaneous amyloidosis (105250), Lin et al. (2010) identified a heterozygous 1940A-T transversion in the OSMR gene, resulting in an asp647-to-val (D647V) substitution in the fnIII domain. The mutation was not found in 142 control subjects from Taiwan or in over 250 control chromosomes from other populations.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022