NM_000132.4:c.*1017C>A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000132.4(F8):c.*1017C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000895 in 111,742 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000132.4 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- hemophilia AInheritance: XL Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), ClinGen
- mild hemophilia AInheritance: XL Classification: SUPPORTIVE Submitted by: Orphanet
- moderately severe hemophilia AInheritance: XL Classification: SUPPORTIVE Submitted by: Orphanet
- severe hemophilia AInheritance: XL Classification: SUPPORTIVE Submitted by: Orphanet
- symptomatic form of hemophilia A in female carriersInheritance: XL Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
F8 | ENST00000360256.9 | c.*1017C>A | 3_prime_UTR_variant | Exon 26 of 26 | 1 | NM_000132.4 | ENSP00000353393.4 | |||
F8 | ENST00000330287.10 | c.*1017C>A | 3_prime_UTR_variant | Exon 5 of 5 | 1 | ENSP00000327895.6 | ||||
F8 | ENST00000644698.1 | c.*1017C>A | 3_prime_UTR_variant | Exon 6 of 6 | ENSP00000495706.1 |
Frequencies
GnomAD3 genomes AF: 0.00000895 AC: 1AN: 111693Hom.: 0 Cov.: 22 show subpopulations
GnomAD4 exome Cov.: 0
GnomAD4 genome AF: 0.00000895 AC: 1AN: 111742Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33958 show subpopulations
ClinVar
Submissions by phenotype
Hereditary factor VIII deficiency disease Uncertain:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at