rs17281398
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000132.4(F8):c.144-5899T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0659 in 110,770 control chromosomes in the GnomAD database, including 255 homozygotes. There are 2,024 hemizygotes in GnomAD. 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_000132.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
F8 | NM_000132.4 | c.144-5899T>C | intron_variant | ENST00000360256.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F8 | ENST00000360256.9 | c.144-5899T>C | intron_variant | 1 | NM_000132.4 | P1 | |||
F8 | ENST00000423959.5 | c.39-5899T>C | intron_variant | 3 | |||||
F8 | ENST00000453950.1 | c.126-5899T>C | intron_variant | 3 | |||||
F8 | ENST00000647125.1 | c.122-5899T>C | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0659 AC: 7300AN: 110718Hom.: 254 Cov.: 21 AF XY: 0.0614 AC XY: 2023AN XY: 32926
GnomAD4 genome ? AF: 0.0659 AC: 7302AN: 110770Hom.: 255 Cov.: 21 AF XY: 0.0614 AC XY: 2024AN XY: 32988
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at