NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) AND Fanconi anemia complementation group C

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 13, 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:: RCV000409084.2

Allele description [Variation Report for NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)]

NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)

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.1498G>T (p.Gly500Ter)

HGVS:

NC_000009.12:g.95107101C>A
NG_011707.1:g.215609G>T
NM_000136.3:c.1498G>TMANE SELECT
NM_001243743.2:c.1498G>T
NP_000127.2:p.Gly500Ter
NP_001230672.1:p.Gly500Ter
LRG_497t1:c.1498G>T
LRG_497:g.215609G>T
NC_000009.11:g.97869383C>A
NM_000136.2:c.1498G>T

Protein change:

G500*

Links:

dbSNP: rs1057516963

NCBI 1000 Genomes Browser:

rs1057516963

Molecular consequence:

NM_000136.3:c.1498G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001243743.2:c.1498G>T - 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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Gm7444 predicted gene 7444 [Mus musculus]
Gm7444 predicted gene 7444 [Mus musculus]
Gene ID:665005

Gene
Gm7444 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486510	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jun 13, 2016)	unknown	clinical testing	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

SCV000486510

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 13, 2016)

unknown

clinical testing

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

Citation Link

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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

Details of each submission

From Counsyl, SCV000486510.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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