chr2-70301656-C-G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001329752.2(FAM136A):āc.356G>Cā(p.Trp119Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00053 in 1,535,386 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001329752.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00284 AC: 432AN: 152238Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.000554 AC: 74AN: 133664Hom.: 1 AF XY: 0.000384 AC XY: 28AN XY: 72894
GnomAD4 exome AF: 0.000275 AC: 381AN: 1383030Hom.: 3 Cov.: 31 AF XY: 0.000227 AC XY: 155AN XY: 682386
GnomAD4 genome AF: 0.00284 AC: 433AN: 152356Hom.: 3 Cov.: 33 AF XY: 0.00272 AC XY: 203AN XY: 74514
ClinVar
Submissions by phenotype
FAM136A-related disorder Benign:1
This variant is classified as 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