NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Mar 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289755.2

Allele description [Variation Report for NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)]

NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)

Gene:
CUBN:cubilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
HGVS:
  • NC_000010.11:g.17046068A>G
  • NG_008967.1:g.88750T>C
  • NM_001081.3:c.3356T>C
  • NM_001081.4:c.3356T>CMANE SELECT
  • NP_001072.2:p.Leu1119Ser
  • NP_001072.2:p.Leu1119Ser
  • LRG_540t1:c.3356T>C
  • LRG_540:g.88750T>C
  • LRG_540p1:p.Leu1119Ser
  • NC_000010.10:g.17088067A>G
Protein change:
L1119S
Links:
dbSNP: rs141164907
NCBI 1000 Genomes Browser:
rs141164907
Molecular consequence:
  • NM_001081.3:c.3356T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081.4:c.3356T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001477741ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Mar 6, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001477741.1

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

Description

The CUBN c.3356T>C; p.Leu1119Ser variant (rs141164907), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 299491). This variant is found in the general population with an overall allele frequency of 0.12% (350/282628 alleles) in the Genome Aggregation Database. The leucine at codon 1119 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Leu1119Ser variant is uncertain at this time.

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

Last Updated: Nov 11, 2021

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