3-194687380-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_153690.5(FAM43A):c.554C>T(p.Ala185Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000715 in 1,537,730 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153690.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152266Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000368 AC: 5AN: 135700Hom.: 0 AF XY: 0.0000271 AC XY: 2AN XY: 73848
GnomAD4 exome AF: 0.00000577 AC: 8AN: 1385346Hom.: 0 Cov.: 31 AF XY: 0.00000293 AC XY: 2AN XY: 682940
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152384Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74520
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.554C>T (p.A185V) alteration is located in exon 1 (coding exon 1) of the FAM43A gene. This alteration results from a C to T substitution at nucleotide position 554, causing the alanine (A) at amino acid position 185 to be replaced by a valine (V). 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