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NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter) AND Fanconi anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2023
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:
RCV001388483.6

Allele description [Variation Report for NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)]

NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)

Gene:
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.1033C>T (p.Gln345Ter)
HGVS:
  • NC_000009.12:g.35076475G>A
  • NG_007312.1:g.8542C>T
  • NG_007887.1:g.1268C>T
  • NM_004629.2:c.1033C>TMANE SELECT
  • NP_004620.1:p.Gln345Ter
  • LRG_499:g.8542C>T
  • LRG_657:g.1268C>T
  • NC_000009.11:g.35076472G>A
Protein change:
Q345*
Links:
dbSNP: rs2131055360
NCBI 1000 Genomes Browser:
rs2131055360
Molecular consequence:
  • NM_004629.2:c.1033C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001589482Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 25, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.

Auerbach AD, Greenbaum J, Pujara K, Batish SD, Bitencourt MA, Kokemohr I, Schneider H, Lobitzc S, Pasquini R, Giampietro PF, Hanenberg H, Levran O; International Fanconi Anemia Registry..

Hum Mutat. 2003 Feb;21(2):158-68. Erratum in: Hum Mutat. 2003 Sep;22(3):255.

PubMed [citation]
PMID:
12552564

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 Invitae, SCV001589482.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant has not been reported in the literature in individuals affected with FANCG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln345*) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). ClinVar contains an entry for this variant (Variation ID: 1075003). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024