rs7647987
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_033084.6(FANCD2):c.*62A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.179 in 1,612,436 control chromosomes in the GnomAD database, including 29,915 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_033084.6 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.242 AC: 36737AN: 151828Hom.: 5944 Cov.: 32
GnomAD4 exome AF: 0.173 AC: 252548AN: 1460492Hom.: 23963 Cov.: 33 AF XY: 0.173 AC XY: 125534AN XY: 726614
GnomAD4 genome AF: 0.242 AC: 36774AN: 151944Hom.: 5952 Cov.: 32 AF XY: 0.236 AC XY: 17561AN XY: 74260
ClinVar
Submissions by phenotype
not provided Benign:2
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Fanconi anemia complementation group D2 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Hereditary breast ovarian cancer syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at