NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 29, 2022
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:: RCV000480099.2

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571381	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 29, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571381

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 29, 2022)

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

Details of each submission

From GeneDx, SCV000571381.4

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Dec 24, 2023

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Relating variation to medicine