NM_000136.3(FANCC):c.1257del (p.Thr420fs) AND Fanconi anemia complementation group A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000988203.1

Allele description [Variation Report for NM_000136.3(FANCC):c.1257del (p.Thr420fs)]

NM_000136.3(FANCC):c.1257del (p.Thr420fs)

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.1257del (p.Thr420fs)

HGVS:

NC_000009.11:g.97873817del
NC_000009.12:g.95111540del
NG_011707.1:g.211175del
NM_000136.3:c.1257delMANE SELECT
NM_001243743.2:c.1257del
NM_001243744.2:c.1257del
NP_000127.2:p.Thr420fs
NP_001230672.1:p.Thr420fs
NP_001230673.1:p.Thr420fs
LRG_497:g.211175del
NC_000009.11:g.97873817del
NC_000009.11:g.97873817delG
NC_000009.11:g.97873822del
NM_000136.2:c.1257delC

Protein change:

T420fs

Links:

dbSNP: rs765551897

NCBI 1000 Genomes Browser:

rs765551897

Molecular consequence:

NM_000136.3:c.1257del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001243743.2:c.1257del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001243744.2:c.1257del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Fanconi anemia complementation group A
Synonyms:: Fanconi anemia, group A
Identifiers:: MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001137840	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001137840

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

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

Details of each submission

From Mendelics, SCV001137840.1

#	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	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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