NM_000038.5(APC):c.531+5G>A

NM_000038.5(APC):c.531+5G>A

Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
  • Chr5:112775742 (on Assembly GRCh38)
  • Chr5:112111439 (on Assembly GRCh37)
Other names:
  • IVS5+5G>A
HGVS:
  • NG_008481.4:g.88222G>A
  • NM_000038.5:c.531+5G>A
  • NM_001127510.2:c.531+5G>A
  • NM_001127511.2:c.561+5G>A
  • NC_000005.10:g.112775742G>A (GRCh38)
  • NC_000005.9:g.112111439G>A (GRCh37)
  • LRG_130:g.88222G>A
  • NM_000038.4:c.531+5G>A
Links:
dbSNP: 587779798
NCBI 1000 Genomes Browser:
rs587779798
Molecular consequence:
NM_000038.5:c.531+5G>A: intron variant [Sequence Ontology SO:0001627]

Clinical significance

NM_000038.5(APC):c.531+5G>A

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • Hereditary cancer-predisposing syndrome[MedGen]
See supporting ClinVar records

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Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(May 27, 2014)
classified by single submitter
(clinical testing)
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germlineGeneDx
(Feb 20, 2015)
SCV000149012

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

GeneDx

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection methodDescription
not providednot providednot providedgermlinenot providednot providednot providedclinical testingSee description

Last Updated: Feb 28, 2015

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