10-87190552-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001330112.2(SHLD2):c.2584G>A(p.Ala862Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0002 in 1,611,788 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330112.2 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: 0.000125 AC: 19AN: 152136Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000916 AC: 23AN: 251130Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 135712
GnomAD4 exome AF: 0.000208 AC: 303AN: 1459652Hom.: 0 Cov.: 32 AF XY: 0.000190 AC XY: 138AN XY: 726146
GnomAD4 genome AF: 0.000125 AC: 19AN: 152136Hom.: 0 Cov.: 31 AF XY: 0.000135 AC XY: 10AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2377G>A (p.A793T) alteration is located in exon 9 (coding exon 7) of the FAM35A gene. This alteration results from a G to A substitution at nucleotide position 2377, causing the alanine (A) at amino acid position 793 to be replaced by a threonine (T). 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