NM_000135.4(FANCA):c.2589C>A (p.Gly863=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: May 18, 2021
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:: RCV001800737.3

Allele description [Variation Report for NM_000135.4(FANCA):c.2589C>A (p.Gly863=)]

NM_000135.4(FANCA):c.2589C>A (p.Gly863=)

Gene:

FANCA:FA complementation group A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000135.4(FANCA):c.2589C>A (p.Gly863=)

HGVS:

NC_000016.10:g.89767153G>T
NG_011706.1:g.54505C>A
NM_000135.4:c.2589C>AMANE SELECT
NM_001286167.3:c.2589C>A
NP_000126.2:p.Gly863=
NP_001273096.1:p.Gly863=
LRG_495t1:c.2589C>A
LRG_495:g.54505C>A
NC_000016.9:g.89833561G>T
NM_000135.2:c.2589C>A
NM_000135.3:c.2589C>A

Links:

dbSNP: rs72807571

NCBI 1000 Genomes Browser:

rs72807571

Molecular consequence:

NM_000135.4:c.2589C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001286167.3:c.2589C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002047129	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (May 18, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23021409, 26467025
SCV003839500	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Likely benign (Nov 10, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002047129

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(May 18, 2021)

unknown

clinical testing

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

SCV003839500

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Likely benign
(Nov 10, 2022)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	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

Citations

PubMed

Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.

Litim N, Labrie Y, Desjardins S, Ouellette G, Plourde K, Belleau P; INHERIT BRCAs., Durocher F.

Mol Oncol. 2013 Feb;7(1):85-100. doi: 10.1016/j.molonc.2012.08.002. Epub 2012 Sep 11.

PubMed [citation]

PMID:: 23021409
PMCID:: PMC5528405

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047129.1

#	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

From Genetic Services Laboratory, University of Chicago, SCV003839500.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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