NM_212482.4:c.7363-30A>G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_212482.4(FN1):c.7363-30A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000782 in 1,508,064 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_212482.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00412 AC: 625AN: 151720Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00104 AC: 260AN: 250202Hom.: 2 AF XY: 0.000701 AC XY: 95AN XY: 135560
GnomAD4 exome AF: 0.000410 AC: 556AN: 1356226Hom.: 7 Cov.: 22 AF XY: 0.000326 AC XY: 222AN XY: 680736
GnomAD4 genome AF: 0.00411 AC: 624AN: 151838Hom.: 4 Cov.: 32 AF XY: 0.00403 AC XY: 299AN XY: 74212
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at