rs7058826
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000132.4(F8):c.1010-27G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.144 in 1,204,928 control chromosomes in the GnomAD database, including 9,109 homozygotes. There are 54,452 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
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.1010-27G>A | intron_variant | ENST00000360256.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F8 | ENST00000360256.9 | c.1010-27G>A | intron_variant | 1 | NM_000132.4 | P1 | |||
F8 | ENST00000647125.1 | c.*886-27G>A | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.133 AC: 14755AN: 111001Hom.: 795 Cov.: 22 AF XY: 0.122 AC XY: 4064AN XY: 33227
GnomAD3 exomes AF: 0.123 AC: 22205AN: 180431Hom.: 1143 AF XY: 0.114 AC XY: 7474AN XY: 65571
GnomAD4 exome AF: 0.145 AC: 158283AN: 1093869Hom.: 8311 Cov.: 30 AF XY: 0.140 AC XY: 50380AN XY: 360243
GnomAD4 genome ? AF: 0.133 AC: 14768AN: 111059Hom.: 798 Cov.: 22 AF XY: 0.122 AC XY: 4072AN XY: 33295
ClinVar
Submissions by phenotype
Hereditary factor VIII deficiency disease Benign:2
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Apr 21, 2020 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 19, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at