NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) AND Fanconi anemia complementation group C

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001273977.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)]

NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)

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.1444_1446del (p.Pro482del)

HGVS:

NC_000009.12:g.95107155_95107157del
NG_011707.1:g.215555_215557del
NM_000136.3:c.1444_1446delMANE SELECT
NM_001243743.2:c.1444_1446del
NP_000127.2:p.Pro482del
NP_001230672.1:p.Pro482del
LRG_497t1:c.1444_1446del
LRG_497:g.215555_215557del
NC_000009.11:g.97869435_97869437del
NC_000009.11:g.97869437_97869439del
NM_000136.2:c.1444_1446del
NM_000136.2:c.1444_1446delCCT
NM_000136.3:c.1444_1446delCCTMANE SELECT

Protein change:

P482del

Links:

dbSNP: rs773270231

NCBI 1000 Genomes Browser:

rs773270231

Molecular consequence:

NM_000136.3:c.1444_1446del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001243743.2:c.1444_1446del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001457638	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001457638

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001457638.1

#	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

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