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NM_053056.2(CCND1):c.723G>A (p.Pro241=)

Variation ID: Help
13755
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
May 1, 2013
Number of submission(s):
3
Condition(s):
  • Colorectal cancer, susceptibility to [MedGen]
  • Multiple myeloma, translocation 11,14 type [MedGen]
  • VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
See supporting ClinVar records

Allele(s) Help

NM_053056.2(CCND1):c.723G>A (p.Pro241=)

Allele ID:
28794
Variant type:
single nucleotide variant
Cytogenetic location:
11q13
Genomic location:
  • Chr11: 69648142 (on Assembly GRCh38)
  • Chr11: 69462910 (on Assembly GRCh37)
HGVS:
  • NG_007375.1:g.12038G>A
  • NM_053056.2:c.723G>A
  • NP_444284.1:p.Pro241=
  • NC_000011.10:g.69648142G>A (GRCh38)
  • LRG_990t1:c.723G>A
  • NC_000011.9:g.69462910G>A (GRCh37)
  • LRG_990p1:p.Pro241=
  • LRG_990:g.12038G>A
Links:
NCBI 1000 Genomes Browser:
rs9344
Molecular consequence:
NM_053056.2:c.723G>A: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.41354 (A)
  • 1000 Genomes Project 0.41354
  • Exome Aggregation Consortium (ExAC) 0.45513
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.38674
  • The Genome Aggregation Database (gnomAD) 0.39661
  • The Genome Aggregation Database (gnomAD), exomes 0.45383
  • Trans-Omics for Precision Medicine (TOPMed) 0.38711

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(May 1, 2013)
no assertion criteria providedliterature only
  • Colorectal cancer, susceptibility to[MedGen]
germlineOMIMSCV000035017.5
risk factor
(May 1, 2013)
no assertion criteria providedliterature only
  • Multiple myeloma, translocation 11,14 type[MedGen]
germlineOMIMSCV000115373.4
risk factor
(May 1, 2013)
no assertion criteria providedliterature only
  • VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
germlineOMIMSCV000119833.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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