rs121964927
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_019616.4(F7):c.1043G>A(p.Cys348Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,460,754 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. C348F) 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
F7 | NM_019616.4 | c.1043G>A | p.Cys348Tyr | missense_variant | 8/8 | ENST00000346342.8 | NP_062562.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
F7 | ENST00000346342.8 | c.1043G>A | p.Cys348Tyr | missense_variant | 8/8 | 1 | NM_019616.4 | ENSP00000329546.4 | ||
F7 | ENST00000375581.3 | c.1109G>A | p.Cys370Tyr | missense_variant | 9/9 | 1 | ENSP00000364731.3 | |||
F7 | ENST00000541084.5 | c.857G>A | p.Cys286Tyr | missense_variant | 6/6 | 2 | ENSP00000442051.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248908Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135286
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460754Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 726670
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at