NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001010060.1

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001170204Ambry Geneticscriteria provided, single submitter
Pathogenic
(Feb 14, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001170204.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.G388* pathogenic mutation (also known as c.1162G>T), located in coding exon 12 of the FANCC gene, results from a G to T substitution at nucleotide position 1162. This changes the amino acid from a glycine to a stop codon within coding exon 12. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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