NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) AND Fanconi anemia complementation group C

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 9, 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:: RCV000409398.2

Allele description [Variation Report for NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)]

NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)

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.1517G>A (p.Trp506Ter)

HGVS:

NC_000009.12:g.95107082C>T
NG_011707.1:g.215628G>A
NM_000136.3:c.1517G>AMANE SELECT
NM_001243743.2:c.1517G>A
NP_000127.2:p.Trp506Ter
NP_001230672.1:p.Trp506Ter
LRG_497t1:c.1517G>A
LRG_497:g.215628G>A
NC_000009.11:g.97869364C>T
NM_000136.2:c.1517G>A

Protein change:

W506*

Links:

dbSNP: rs1057516488

NCBI 1000 Genomes Browser:

rs1057516488

Molecular consequence:

NM_000136.3:c.1517G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001243743.2:c.1517G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Fanconi anemia complementation group C (FANCC)
Synonyms:: FANCONI PANCYTOPENIA, TYPE 3; FACC; Fanconi anemia, group C
Identifiers:: MONDO: MONDO:0009213; MedGen: C3468041; Orphanet: 84; OMIM: 227645

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000485763	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Feb 9, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000485763

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Feb 9, 2016)

unknown

clinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.

Lo ten Foe JR, Barel MT, Thuss P, Digweed M, Arwert F, Joenje H.

Hum Genet. 1996 Nov;98(5):522-3.

PubMed [citation]

PMID:: 8882868

Details of each submission

From Counsyl, SCV000485763.2

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

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

Last Updated: Sep 29, 2024

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