ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)

dbSNP: rs868273545
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411410 SCV000485796 pathogenic Fanconi anemia complementation group A 2016-08-16 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252108 SCV002523596 pathogenic See cases 2020-03-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4, PM2
Fulgent Genetics, Fulgent Genetics RCV000411410 SCV002811719 pathogenic Fanconi anemia complementation group A 2022-03-15 criteria provided, single submitter clinical testing
Lifecell International Pvt. Ltd RCV000411410 SCV003845980 pathogenic Fanconi anemia complementation group A criteria provided, single submitter clinical testing A Heterozygous Frameshift variant c.3761_3762delAG in Exon 37 of the FANCA gene that results in the amino acid substitution p.Glu1254fs*23 was identified. The observed variant novel in gnomAD exomes and genomes, respectively. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score . Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Pathogenic (variant ID: 370466). This variant was reported among the patients for Fanconi Anemia (Levran O et al., 1997). Based on the above evidence this variant has been classified as Pathogenic according to the ACMG guidelines.
Baylor Genetics RCV000411410 SCV004196028 pathogenic Fanconi anemia complementation group A 2023-12-19 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000411410 SCV001425988 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Sue Richards.

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