19-38404937-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_174905.4(FAM98C):c.379C>T(p.Arg127Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000229 in 1,614,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_174905.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM98C | NM_174905.4 | c.379C>T | p.Arg127Cys | missense_variant | Exon 4 of 8 | ENST00000252530.10 | NP_777565.3 | |
FAM98C | NM_001351675.1 | c.379C>T | p.Arg127Cys | missense_variant | Exon 4 of 6 | NP_001338604.1 | ||
FAM98C | XM_017026354.2 | c.379C>T | p.Arg127Cys | missense_variant | Exon 4 of 6 | XP_016881843.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249288Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135404
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727244
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.379C>T (p.R127C) alteration is located in exon 4 (coding exon 4) of the FAM98C gene. This alteration results from a C to T substitution at nucleotide position 379, causing the arginine (R) at amino acid position 127 to be replaced by a cysteine (C). 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