3-184341794-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The NM_144635.5(FAM131A):c.302C>T(p.Ala101Val) variant causes a missense change. The variant allele was found at a frequency of 0.00163 in 1,614,040 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 Likely benign (no stars).
Frequency
Consequence
NM_144635.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00112 AC: 170AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000998 AC: 251AN: 251390Hom.: 0 AF XY: 0.00105 AC XY: 143AN XY: 135882
GnomAD4 exome AF: 0.00168 AC: 2462AN: 1461738Hom.: 0 Cov.: 30 AF XY: 0.00160 AC XY: 1165AN XY: 727184
GnomAD4 genome AF: 0.00112 AC: 170AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.000846 AC XY: 63AN XY: 74482
ClinVar
Submissions by phenotype
FAM131A-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