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NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) AND Imerslund-Grasbeck syndrome type 1

Germline classification:
Benign (1 submission)
Last evaluated:
May 15, 2017
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:
RCV001102938.12

Allele description [Variation Report for NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)]

NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)

Gene:
CUBN:cubilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)
HGVS:
  • NC_000010.11:g.16869750C>T
  • NG_008967.1:g.265068G>A
  • NM_001081.4:c.9340G>AMANE SELECT
  • NP_001072.2:p.Gly3114Ser
  • NP_001072.2:p.Gly3114Ser
  • LRG_540t1:c.9340G>A
  • LRG_540:g.265068G>A
  • LRG_540p1:p.Gly3114Ser
  • NC_000010.10:g.16911749C>T
  • NM_001081.3:c.9340G>A
Protein change:
G3114S
Links:
dbSNP: rs117035284
NCBI 1000 Genomes Browser:
rs117035284
Molecular consequence:
  • NM_001081.4:c.9340G>A - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001259639Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(May 15, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M, Sahel JA, Bhattacharya SS, Zeitz C.

Orphanet J Rare Dis. 2012 Jan 25;7:8. doi: 10.1186/1750-1172-7-8.

PubMed [citation]
PMID:
22277662
PMCID:
PMC3352121

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001259639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Apr 15, 2024