NM_000136.3(FANCC):c.346-1G>A AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Sep 23, 2020
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:: RCV001195046.4

Allele description [Variation Report for NM_000136.3(FANCC):c.346-1G>A]

NM_000136.3(FANCC):c.346-1G>A

Gene:

FANCC:FA complementation group C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000136.3(FANCC):c.346-1G>A

HGVS:

NC_000009.12:g.95172148C>T
NG_011707.1:g.150562G>A
NM_000136.3:c.346-1G>AMANE SELECT
NM_001243743.2:c.346-1G>A
NM_001243744.2:c.346-1G>A
LRG_497t1:c.346-1G>A
LRG_497:g.150562G>A
NC_000009.11:g.97934430C>T
NM_000136.2:c.346-1G>A
NM_001243743.1:c.346-1G>A

Links:

dbSNP: rs1484503633

NCBI 1000 Genomes Browser:

rs1484503633

Molecular consequence:

NM_000136.3:c.346-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001243743.2:c.346-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001243744.2:c.346-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001365317	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Feb 28, 2020)	germline	curation	PubMed (1) [See all records that cite this PMID]
SCV001823585	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Sep 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001365317

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(Feb 28, 2020)

germline

curation

PubMed (1)
[See all records that cite this PMID]

SCV001823585

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Sep 23, 2020)

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, curation

Citations

PubMed

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.

J Med Genet. 2020 Jan;57(1):53-61. doi: 10.1136/jmedgenet-2019-106189. Epub 2019 Jul 12.

PubMed [citation]

PMID:: 31300551
PMCID:: PMC6929701

Details of each submission

From Leiden Open Variation Database, SCV001365317.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Florentia Fostira.

#	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

From GeneDx, SCV001823585.1

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

Description

Canonical splice site variant predicted to result in an in-frame deletion of exon 5, which would disrupt the GRP94, FAZF, Hsp70 and RED binding sites (Gordon 2000); Not observed in large population cohorts (Lek 2016); Observed in individuals with advanced cancer (Schrader 2016); This variant is associated with the following publications: (PMID: 31300551, 27533158, 26556299)

#	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: Sep 29, 2024

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