NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Apr 24, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000514324.7

Allele description [Variation Report for NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)]

NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)

Genes:

VCP:valosin containing protein [Gene - OMIM - HGNC]
FANCG:FA complementation group G [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)

HGVS:

NC_000009.12:g.35076758G>A
NG_007312.1:g.8259C>T
NG_007887.1:g.985C>T
NM_004629.2:c.890C>TMANE SELECT
NP_004620.1:p.Thr297Ile
NP_004620.1:p.Thr297Ile
LRG_499t1:c.890C>T
LRG_499:g.8259C>T
LRG_499p1:p.Thr297Ile
LRG_657:g.985C>T
NC_000009.11:g.35076755G>A
NM_004629.1:c.890C>T
O15287:p.Thr297Ile

Protein change:

T297I

Links:

UniProtKB: O15287#VAR_020311; dbSNP: rs2237857

NCBI 1000 Genomes Browser:

rs2237857

Molecular consequence:

NM_004629.2:c.890C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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FSU_0218 AND (alive[prop]) (0)
Gene
Lancefieldella parvula DSM 20469, complete sequence
Lancefieldella parvula DSM 20469, complete sequence
gi|257783814|ref|NC_013203.1|

Nucleotide
At.38689 AND (alive[prop]) (1)
Gene
BLH8 BEL1-like homeodomain 8 [Arabidopsis thaliana]
BLH8 BEL1-like homeodomain 8 [Arabidopsis thaliana]
Gene ID:817343

Gene
guanylyltransferase [African swine fever virus]
guanylyltransferase [African swine fever virus]
gi|723633599|gb|AIY22450.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000610984	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 10, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001869681	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Apr 24, 2019)	germline	clinical testing	Citation Link,
SCV005226362	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000610984

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 10, 2017)

germline

clinical testing

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

SCV001869681

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Apr 24, 2019)

germline

clinical testing

Citation Link,

SCV005226362

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

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

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, not provided

Citations

PubMed

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

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610984.1

#	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	0.007483	not provided	not provided

From GeneDx, SCV001869681.1

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

Description

This variant is associated with the following publications: (PMID: 11093276, 27153395, 27884173, 11438206, 24728327, 20981092, 17010390)

#	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 Breakthrough Genomics, Breakthrough Genomics, SCV005226362.1

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

#	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: Oct 13, 2024

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