NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: May 17, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000202668.2

Allele description [Variation Report for NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)]

NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)

Genes:
FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
HGVS:
  • NC_000009.12:g.95111630C>A
  • NG_011707.1:g.211080G>T
  • NM_000136.3:c.1162G>TMANE SELECT
  • NM_001243743.2:c.1162G>T
  • NM_001243744.2:c.1162G>T
  • NP_000127.2:p.Gly388Ter
  • NP_001230672.1:p.Gly388Ter
  • NP_001230673.1:p.Gly388Ter
  • LRG_497t1:c.1162G>T
  • LRG_497:g.211080G>T
  • NC_000009.11:g.97873912C>A
  • NM_000136.2:c.1162G>T
Protein change:
G388*
Links:
dbSNP: rs371897078
NCBI 1000 Genomes Browser:
rs371897078
Molecular consequence:
  • NM_000136.3:c.1162G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243743.2:c.1162G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001243744.2:c.1162G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257631Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Pathogenic
(Jul 15, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx,

Citation Link,

SCV000779409GeneDxcriteria provided, single submitter
Likely pathogenic
(May 17, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000257631.2

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

From GeneDx, SCV000779409.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Observed in individuals with pancreatic and other cancers (Lu 2015, Hu 2018); This variant is associated with the following publications: (PMID: 26689913, 23634996, 29922827)

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

Last Updated: Nov 27, 2021

Support Center