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

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Feb 1, 2024
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:: RCV000302780.18

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)

Name:: Fanconi anemia (FA)
Synonyms:: Fanconi pancytopenia; Fanconi's anemia
Identifiers:: MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

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
SCV000479846	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV000558821	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002537560	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Feb 4, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000479846

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000558821

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 2024)

germline

clinical testing

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

SCV002537560

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Feb 4, 2020)

germline

curation

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000479846.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000558821.9

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sema4, Sema4, SCV002537560.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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