10-119123527-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207009.4(DENND10):c.652C>T(p.His218Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000184 in 1,613,860 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_207009.4 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: 0.000112 AC: 17AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000151 AC: 38AN: 251422Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135884
GnomAD4 exome AF: 0.000192 AC: 280AN: 1461744Hom.: 0 Cov.: 31 AF XY: 0.000184 AC XY: 134AN XY: 727200
GnomAD4 genome AF: 0.000112 AC: 17AN: 152116Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.652C>T (p.H218Y) alteration is located in exon 6 (coding exon 6) of the FAM45A gene. This alteration results from a C to T substitution at nucleotide position 652, causing the histidine (H) at amino acid position 218 to be replaced by a tyrosine (Y). 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