9-20720423-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001375567.1(FOCAD):āc.176A>Gā(p.Asn59Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000235 in 1,613,920 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001375567.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOCAD | NM_001375567.1 | c.176A>G | p.Asn59Ser | missense_variant | 4/44 | ENST00000338382.11 | NP_001362496.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FOCAD | ENST00000338382.11 | c.176A>G | p.Asn59Ser | missense_variant | 4/44 | 5 | NM_001375567.1 | ENSP00000344307 | P1 | |
FOCAD | ENST00000380249.5 | c.176A>G | p.Asn59Ser | missense_variant | 6/46 | 1 | ENSP00000369599 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152088Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251376Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135858
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461832Hom.: 0 Cov.: 32 AF XY: 0.0000206 AC XY: 15AN XY: 727212
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152088Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74314
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 15, 2023 | The c.176A>G (p.N59S) alteration is located in exon 6 (coding exon 3) of the FOCAD gene. This alteration results from a A to G substitution at nucleotide position 176, causing the asparagine (N) at amino acid position 59 to be replaced by a serine (S). 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