rs7719329
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005246.4(FER):c.1924+8761C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000066 in 151,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005246.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FER | ENST00000281092.9 | c.1924+8761C>A | intron_variant | Intron 16 of 19 | 1 | NM_005246.4 | ENSP00000281092.4 | |||
FER | ENST00000618353.1 | c.817+8761C>A | intron_variant | Intron 7 of 10 | 1 | ENSP00000484767.1 | ||||
FER | ENST00000438717.6 | c.691+8761C>A | intron_variant | Intron 7 of 10 | 2 | ENSP00000394297.4 | ||||
FER | ENST00000504143.6 | n.*1395+8761C>A | intron_variant | Intron 14 of 17 | 5 | ENSP00000421951.2 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151482Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151584Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74018
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.