13-113106877-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000131.4(F7):c.97C>T(p.Arg33Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 1,606,634 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000131.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
F7 | ENST00000375581.3 | c.97C>T | p.Arg33Trp | missense_variant | 2/9 | 1 | ENSP00000364731.3 | |||
F7 | ENST00000346342.8 | c.64+972C>T | intron_variant | 1 | NM_019616.4 | ENSP00000329546.4 | ||||
F7 | ENST00000541084.5 | c.64+972C>T | intron_variant | 2 | ENSP00000442051.2 | |||||
F7 | ENST00000444337.1 | n.64+972C>T | intron_variant | 5 | ENSP00000387669.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152000Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000842 AC: 2AN: 237420Hom.: 0 AF XY: 0.00000775 AC XY: 1AN XY: 129102
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1454634Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 723014
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152000Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74230
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 12, 2024 | The c.97C>T (p.R33W) alteration is located in exon 2 (coding exon 2) of the F7 gene. This alteration results from a C to T substitution at nucleotide position 97, causing the arginine (R) at amino acid position 33 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at