U.S. flag

An official website of the United States government

NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter) AND Imerslund-Grasbeck syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000049731.1

Allele description [Variation Report for NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)]

NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)

Gene:
CUBN:cubilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)
HGVS:
  • NC_000010.11:g.17103219G>C
  • NG_008967.1:g.31599C>G
  • NM_001081.4:c.1436C>GMANE SELECT
  • NP_001072.2:p.Ser479Ter
  • NP_001072.2:p.Ser479Ter
  • LRG_540t1:c.1436C>G
  • LRG_540:g.31599C>G
  • LRG_540p1:p.Ser479Ter
  • NC_000010.10:g.17145218G>C
  • NM_001081.3:c.1436C>G
Protein change:
S479*
Links:
dbSNP: rs386833767
NCBI 1000 Genomes Browser:
rs386833767
Molecular consequence:
  • NM_001081.4:c.1436C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Imerslund-Grasbeck syndrome
Synonyms:
Megaloblastic anemia due to inborn errors of metabolism; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria; Enterocyte cobalamin malabsorption; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009853; MedGen: C4551825; Orphanet: 35858; OMIM: PS261100

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
SCV000082138Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
no assertion criteria provided
probable-pathogenicnot providednot provided

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

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082138

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.

Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle A.

Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56.

PubMed [citation]
PMID:
22929189
PMCID:
PMC3462684

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082138.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022