15-82990021-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031452.4(RAMAC):c.311A>G(p.Tyr104Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000148 in 1,559,070 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031452.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000564 AC: 8AN: 141750Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000337 AC: 8AN: 237200Hom.: 0 AF XY: 0.00000775 AC XY: 1AN XY: 129000
GnomAD4 exome AF: 0.0000106 AC: 15AN: 1417320Hom.: 0 Cov.: 24 AF XY: 0.00000854 AC XY: 6AN XY: 702884
GnomAD4 genome AF: 0.0000564 AC: 8AN: 141750Hom.: 0 Cov.: 30 AF XY: 0.0000146 AC XY: 1AN XY: 68282
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.311A>G (p.Y104C) alteration is located in exon 4 (coding exon 2) of the FAM103A1 gene. This alteration results from a A to G substitution at nucleotide position 311, causing the tyrosine (Y) at amino acid position 104 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