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NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 21, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000727792.10

Allele description [Variation Report for NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)]

NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)

Gene:
CUBN:cubilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
HGVS:
  • NC_000010.11:g.16950012G>A
  • NG_008967.1:g.184806C>T
  • NM_001081.4:c.5069C>TMANE SELECT
  • NP_001072.2:p.Ala1690Val
  • NP_001072.2:p.Ala1690Val
  • LRG_540t1:c.5069C>T
  • LRG_540:g.184806C>T
  • LRG_540p1:p.Ala1690Val
  • NC_000010.10:g.16992011G>A
  • NM_001081.3:c.5069C>T
Protein change:
A1690V
Links:
dbSNP: rs141640975
NCBI 1000 Genomes Browser:
rs141640975
Molecular consequence:
  • NM_001081.4:c.5069C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000855196Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Sep 22, 2017) 		germlineclinical testing

Citation Link,

SCV001795933GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 21, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000855196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV001795933.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25349199, 31613795, 30547231, 30220432, 31630189)

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

Last Updated: Jul 7, 2024