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NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 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:
RCV002478109.1

Allele description [Variation Report for NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg)]

NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg)

Genes:
LOC130009752:ATAC-STARR-seq lymphoblastoid silent region 5332 [Gene]
ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg)
HGVS:
  • NC_000013.11:g.48233452C>G
  • NG_013069.2:g.5841C>G
  • NM_021999.5:c.92C>GMANE SELECT
  • NP_068839.1:p.Pro31Arg
  • LRG_1309t1:c.92C>G
  • LRG_1309:g.5841C>G
  • LRG_1309p1:p.Pro31Arg
  • NC_000013.10:g.48807588C>G
Protein change:
P31R
Links:
dbSNP: rs150336652
NCBI 1000 Genomes Browser:
rs150336652
Molecular consequence:
  • NM_021999.5:c.92C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ABri amyloidosis (FBD)
Synonyms:
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1; CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE; PRESENILE DEMENTIA WITH SPASTIC ATAXIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008306; MedGen: C5190835; Orphanet: 439254; Orphanet: 97345; OMIM: 176500
Name:
ADan amyloidosis
Synonyms:
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2; CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS; HEREDOPATHIA OPHTHALMOOTOENCEPHALICA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007297; MedGen: C1861735; Orphanet: 439254; OMIM: 117300
Name:
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Synonyms:
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Identifiers:
MONDO: MONDO:0014483; MedGen: C4015146; Orphanet: 397758; OMIM: 616079

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002790202Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 14, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002790202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025