NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) AND Imerslund-Gräsbeck syndrome 1

Clinical significance:Pathogenic (Last evaluated: May 18, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001095371.1

Allele description [Variation Report for NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)]

NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)

Gene:
CUBN:cubilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
HGVS:
  • NC_000010.11:g.17110924G>A
  • NG_008967.1:g.23894C>T
  • NM_001081.4:c.1010C>TMANE SELECT
  • NP_001072.2:p.Pro337Leu
  • LRG_540:g.23894C>T
  • NC_000010.10:g.17152923G>A
Protein change:
P337L; PRO337LEU
Links:
OMIM: 602997.0004
Molecular consequence:
  • NM_001081.4:c.1010C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Imerslund-Gräsbeck syndrome 1 (IGS1)
Synonyms:
Megaloblastic anemia 1, Finnish type; MEGALOBLASTIC ANEMIA, FINNISH TYPE
Identifiers:
MONDO: MONDO:0100156; MedGen: C4016819; OMIM: 261100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001250979OMIMno assertion criteria providedPathogenic
(May 18, 2020)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN.

Hauck FH, Tanner SM, Henker J, Laass MW.

Eur J Pediatr. 2008 Jun;167(6):671-5. Epub 2007 Aug 1.

PubMed [citation]
PMID:
17668238

Details of each submission

From OMIM, SCV001250979.15

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

Description

In a 15-year-old German girl, born of unrelated parents, with Imerslund-Grasbeck syndrome-1 (IGS1; 261100), Hauck et al. (2008) identified a heterozygous c.1010C-T transition in the CUBN gene, resulting in a pro337-to-leu (P337L) substitution inherited from her unaffected father. The other allele carried a heterozygous large deletion encompassing the entire CUBN gene as well as about 150-kb up- and downstream from the gene boundaries. The deletion was presumably inherited from the mother, although DNA from the mother was not available. Functional studies of the variant and studies of the variant in patient cells were not performed.

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

Last Updated: Jan 30, 2021

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