rs4977881
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM2PM5BP4_Moderate
The NM_001375567.1(FOCAD):āc.5002A>Cā(p.Lys1668Gln) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. 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. K1668N) has been classified as Pathogenic.
Frequency
Consequence
NM_001375567.1 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOCAD | NM_001375567.1 | c.5002A>C | p.Lys1668Gln | missense_variant, splice_region_variant | 41/44 | ENST00000338382.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOCAD | ENST00000338382.11 | c.5002A>C | p.Lys1668Gln | missense_variant, splice_region_variant | 41/44 | 5 | NM_001375567.1 | P1 | |
FOCAD | ENST00000380249.5 | c.5002A>C | p.Lys1668Gln | missense_variant, splice_region_variant | 43/46 | 1 | P1 | ||
FOCAD | ENST00000605086.5 | n.3472A>C | splice_region_variant, non_coding_transcript_exon_variant | 29/32 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 26
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1418142Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 708122
GnomAD4 genome ? Cov.: 26
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at