4-88739101-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014883.4(FAM13A):c.2491A>C(p.Met831Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000204 in 1,613,714 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014883.4 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: 0.00000658 AC: 1AN: 152070Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251208Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135782
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461644Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 727134
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152070Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2491A>C (p.M831L) alteration is located in exon 20 (coding exon 20) of the FAM13A gene. This alteration results from a A to C substitution at nucleotide position 2491, causing the methionine (M) at amino acid position 831 to be replaced by a leucine (L). 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