NM_001081.4(CUBN):c.9553del (p.Cys3185fs) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 11, 2024
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:: RCV005033337.1

Allele description [Variation Report for NM_001081.4(CUBN):c.9553del (p.Cys3185fs)]

NM_001081.4(CUBN):c.9553del (p.Cys3185fs)

Gene:

CUBN:cubilin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10p13

Genomic location:

Preferred name:

NM_001081.4(CUBN):c.9553del (p.Cys3185fs)

HGVS:

NC_000010.11:g.16851345del
NG_008967.1:g.283473del
NM_001081.4:c.9553delMANE SELECT
NP_001072.2:p.Cys3185Valfs
NP_001072.2:p.Cys3185fs
LRG_540t1:c.9553del
LRG_540:g.283473del
LRG_540p1:p.Cys3185Valfs
NC_000010.10:g.16893344del
NM_001081.3:c.9553delT

Protein change:

C3185fs

Molecular consequence:

NM_001081.4:c.9553del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Name:: Proteinuria, chronic benign
Identifiers:: MONDO: MONDO:0030042; MedGen: C5394384; OMIM: 618884

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005668932	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 11, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005668932

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 11, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV005668932.1

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

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

Last Updated: Apr 7, 2025

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