rs121964934
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_019616.4(F7):āc.1099T>Cā(p.Cys367Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,460,948 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C367G) has been classified as Pathogenic.
Frequency
Consequence
NM_019616.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
F7 | NM_019616.4 | c.1099T>C | p.Cys367Arg | missense_variant | 8/8 | ENST00000346342.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F7 | ENST00000346342.8 | c.1099T>C | p.Cys367Arg | missense_variant | 8/8 | 1 | NM_019616.4 | P2 | |
F7 | ENST00000375581.3 | c.1165T>C | p.Cys389Arg | missense_variant | 9/9 | 1 | A2 | ||
F7 | ENST00000541084.5 | c.913T>C | p.Cys305Arg | missense_variant | 6/6 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249480Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135414
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1460948Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726772
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at