NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly) AND Imerslund-Grasbeck syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 15, 2016
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:: RCV000625409.3

Allele description [Variation Report for NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly)]

NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly)

Gene:

CUBN:cubilin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

Preferred name:

NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly)

HGVS:

NC_000010.11:g.16831309T>C
NG_008967.1:g.303509A>G
NM_001081.4:c.10471A>GMANE SELECT
NP_001072.2:p.Ser3491Gly
NP_001072.2:p.Ser3491Gly
LRG_540t1:c.10471A>G
LRG_540:g.303509A>G
LRG_540p1:p.Ser3491Gly
NC_000010.10:g.16873308T>C
NM_001081.3:c.10471A>G

Protein change:

S3491G

Links:

dbSNP: rs1183879233

NCBI 1000 Genomes Browser:

rs1183879233

Molecular consequence:

NM_001081.4:c.10471A>G - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000745263	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Uncertain significance (Jan 15, 2016)	germline	clinical testing	Citation Link,
SCV000745856	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided (ACGS Guidelines, 2013)	Uncertain significance (Jun 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000745263

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Uncertain significance
(Jan 15, 2016)

germline

clinical testing

Citation Link,

SCV000745856

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

(ACGS Guidelines, 2013)

Uncertain significance
(Jun 1, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745263.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV000745856.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Dec 24, 2023

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