X-37008439-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001013736.3(FAM47C):c.29C>T(p.Pro10Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000024 in 1,208,028 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 12 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001013736.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000176 AC: 2AN: 113410Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35540
GnomAD3 exomes AF: 0.0000112 AC: 2AN: 178214Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 63472
GnomAD4 exome AF: 0.0000247 AC: 27AN: 1094618Hom.: 0 Cov.: 34 AF XY: 0.0000333 AC XY: 12AN XY: 360522
GnomAD4 genome AF: 0.0000176 AC: 2AN: 113410Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35540
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.29C>T (p.P10L) alteration is located in exon 1 (coding exon 1) of the FAM47C gene. This alteration results from a C to T substitution at nucleotide position 29, causing the proline (P) at amino acid position 10 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