rs140068026
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 6P and 1B. PM1PM2PM5BP4
The NM_000128.4(F11):c.1507T>A(p.Ser503Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,908 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. S503P) has been classified as Uncertain significance.
Frequency
Consequence
NM_000128.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
F11 | NM_000128.4 | c.1507T>A | p.Ser503Thr | missense_variant | 13/15 | ENST00000403665.7 | |
F11-AS1 | NR_033900.1 | n.1067-175A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
F11 | ENST00000403665.7 | c.1507T>A | p.Ser503Thr | missense_variant | 13/15 | 1 | NM_000128.4 | P1 | |
F11-AS1 | ENST00000505103.5 | n.1006-175A>T | intron_variant, non_coding_transcript_variant | 1 | |||||
F11 | ENST00000264691.4 | c.176+628T>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000789 AC: 12AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251432Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135890
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461730Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727170
GnomAD4 genome ? AF: 0.0000789 AC: 12AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at