chr16-15599010-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_014647.4(MARF1):c.4828G>C(p.Glu1610Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000104 in 1,608,520 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014647.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000856 AC: 13AN: 151954Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000666 AC: 16AN: 240084Hom.: 0 AF XY: 0.0000765 AC XY: 10AN XY: 130722
GnomAD4 exome AF: 0.000106 AC: 154AN: 1456566Hom.: 0 Cov.: 32 AF XY: 0.000104 AC XY: 75AN XY: 724578
GnomAD4 genome AF: 0.0000856 AC: 13AN: 151954Hom.: 0 Cov.: 31 AF XY: 0.0000943 AC XY: 7AN XY: 74208
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4828G>C (p.E1610Q) alteration is located in exon 26 (coding exon 25) of the KIAA0430 gene. This alteration results from a G to C substitution at nucleotide position 4828, causing the glutamic acid (E) at amino acid position 1610 to be replaced by a glutamine (Q). 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