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NM_004629.2(FANCG):c.1077-2A>G AND Fanconi anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 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:
RCV000695845.14

Allele description [Variation Report for NM_004629.2(FANCG):c.1077-2A>G]

NM_004629.2(FANCG):c.1077-2A>G

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.1077-2A>G
HGVS:
  • NC_000009.12:g.35076030T>C
  • NG_007312.1:g.8987A>G
  • NG_007887.1:g.1713A>G
  • NM_004629.2:c.1077-2A>GMANE SELECT
  • LRG_499t1:c.1077-2A>G
  • LRG_499:g.8987A>G
  • LRG_657:g.1713A>G
  • NC_000009.11:g.35076027T>C
  • NM_004629.1:c.1077-2A>G
Links:
dbSNP: rs769547477
NCBI 1000 Genomes Browser:
rs769547477
Molecular consequence:
  • NM_004629.2:c.1077-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000824367Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 22, 2023) 		germlineclinical testing

PubMed (4)
[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

A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

Pilonetto DV, Pereira NF, Bonfim CMS, Ribeiro LL, Bitencourt MA, Kerkhoven L, Floor K, Ameziane N, Joenje H, Gille JJP, Pasquini R.

Mol Genet Genomic Med. 2017 Jul;5(4):360-372. doi: 10.1002/mgg3.293.

PubMed [citation]
PMID:
28717661
PMCID:
PMC5511800
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000824367.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change affects an acceptor splice site in intron 8 of the FANCG gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs769547477, gnomAD 0.009%). Disruption of this splice site has been observed in individuals with Fanconi anaemia (PMID: 11093276, 12552564, 28717661). This variant is also known as IVS8-2A>G. ClinVar contains an entry for this variant (Variation ID: 445394). Studies have shown that disruption of this splice site results in skipping of exon 9 and activation of a cryptic splice site and introduces a premature termination codon (PMID: 11093276). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 13, 2024