NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Nov 3, 2021
Review status:: criteria provided, conflicting classifications

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:: RCV001195037.6

Allele description [Variation Report for NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)]

NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)

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.632C>G (p.Pro211Arg)

Other names:

p.P211R:CCT>CGT

HGVS:

NC_000009.12:g.95149977G>C
NG_011707.1:g.172733C>G
NM_000136.3:c.632C>GMANE SELECT
NM_001243743.2:c.632C>G
NM_001243744.2:c.632C>G
NP_000127.2:p.Pro211Arg
NP_001230672.1:p.Pro211Arg
NP_001230673.1:p.Pro211Arg
LRG_497t1:c.632C>G
LRG_497:g.172733C>G
NC_000009.11:g.97912259G>C
NM_000136.2:c.632C>G

Protein change:

P211R

Links:

dbSNP: rs140781259

NCBI 1000 Genomes Browser:

rs140781259

Molecular consequence:

NM_000136.3:c.632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243743.2:c.632C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243744.2:c.632C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

LGALS2 [Delphinapterus leucas]
LGALS2 [Delphinapterus leucas]
Gene ID:111186388

Gene
Synj1 synaptojanin 1 [Rattus norvegicus]
Synj1 synaptojanin 1 [Rattus norvegicus]
Gene ID:85238

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001365303	Leiden Open Variation Database	no assertion criteria provided	Uncertain significance (Feb 28, 2020)	germline	curation	PubMed (1) [See all records that cite this PMID]
SCV002010153	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 3, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002047010	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (May 18, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24728327, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001365303

Leiden Open Variation Database

no assertion criteria provided

Uncertain significance
(Feb 28, 2020)

germline

curation

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

SCV002010153

Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 3, 2021)

germline

clinical testing

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

SCV002047010

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(May 18, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Increased frequency of Fanconi anemia group C genetic variants in children with sporadic acute myeloid leukemia.

Awan A, Malcolm Taylor G, Gokhale DA, Dearden SP, Will A, Stevens RF, Birch JM, Eden T.

Blood. 1998 Jun 15;91(12):4813-4. No abstract available.

PubMed [citation]

PMID:: 9616183

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (4)

Details of each submission

From Leiden Open Variation Database, SCV001365303.1

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

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

#	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

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002010153.3

#	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	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047010.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Oct 8, 2024

ClinVar

Relating variation to medicine