NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) AND not specified

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 7, 2023
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:: RCV003150957.4

Allele description [Variation Report for NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)]

NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)

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.1316G>A (p.Arg439Lys)

Other names:

p.R439K:AGA>AAA

HGVS:

NC_000009.12:g.95111476C>T
NG_011707.1:g.211234G>A
NM_000136.3:c.1316G>AMANE SELECT
NM_001243743.2:c.1316G>A
NM_001243744.2:c.1316G>A
NP_000127.2:p.Arg439Lys
NP_001230672.1:p.Arg439Lys
NP_001230673.1:p.Arg439Lys
LRG_497t1:c.1316G>A
LRG_497:g.211234G>A
NC_000009.11:g.97873758C>T
NM_000136.2:c.1316G>A
p.Arg439Lys

Protein change:

R439K

Links:

dbSNP: rs730881723

NCBI 1000 Genomes Browser:

rs730881723

Molecular consequence:

NM_000136.3:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001243743.2:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001243744.2:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003839506	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Uncertain significance (Sep 16, 2022)	germline	clinical testing
SCV003928802	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Apr 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003839506

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Uncertain significance
(Sep 16, 2022)

germline

clinical testing

SCV003928802

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Apr 7, 2023)

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839506.1

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

Description

DNA sequence analysis of the FANCC gene demonstrated a sequence change, c.1316G>A, in exon 13 that results in an amino acid change, p.Arg439Lys. This sequence change does not appear to have been previously described in individuals with FANCC-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.0016% in the overall population (dbSNP rs730881723). The p.Arg439Lys change affects a highly conserved amino acid residue located in a domain of the FANCC protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg439Lys substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg439Lys change remains unknown at this time.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003928802.1

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

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine