rs142320110
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP3BP4_Moderate
The NM_001329752.2(FAM136A):c.523G>T(p.Val175Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000109 in 1,612,550 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_001329752.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000239 AC: 60AN: 251306Hom.: 0 AF XY: 0.000243 AC XY: 33AN XY: 135816
GnomAD4 exome AF: 0.000111 AC: 162AN: 1460312Hom.: 0 Cov.: 30 AF XY: 0.000123 AC XY: 89AN XY: 726076
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.202G>T (p.V68F) alteration is located in exon 2 (coding exon 2) of the FAM136A gene. This alteration results from a G to T substitution at nucleotide position 202, causing the valine (V) at amino acid position 68 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
FAM136A-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at