NM_000136.3(FANCC):c.595del (p.Leu199fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 15, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000483255.1

Allele description [Variation Report for NM_000136.3(FANCC):c.595del (p.Leu199fs)]

NM_000136.3(FANCC):c.595del (p.Leu199fs)

Genes:

FANCC:FA complementation group C [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000136.3(FANCC):c.595del (p.Leu199fs)

HGVS:

NC_000009.12:g.95150018del
NG_011707.1:g.172696del
NM_000136.3:c.595delMANE SELECT
NM_001243743.2:c.595del
NM_001243744.2:c.595del
NP_000127.2:p.Leu199fs
NP_001230672.1:p.Leu199fs
NP_001230673.1:p.Leu199fs
LRG_497t1:c.595del
LRG_497:g.172696del
NC_000009.11:g.97912296del
NC_000009.11:g.97912300del
NM_000136.2:c.595delC

Protein change:

L199fs

Links:

dbSNP: rs1057519366

NCBI 1000 Genomes Browser:

rs1057519366

Molecular consequence:

NM_000136.3:c.595del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001243743.2:c.595del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001243744.2:c.595del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000572484	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Dec 15, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000572484

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Dec 15, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000572484.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This deletion of one nucleotide in FANCC is denoted c.595delC at the cDNA level and p.Leu199TrpfsX25 (L199WfsX25) at the protein level. The normal sequence, with the base that is deleted in brackets, is ACCCC[delC]TGGT. The deletion causes a frameshift which changes a Leucine to a Tryptophan at codon 199, and creates a premature stop codon at position 25 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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