1-206195869-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001123168.3(FAM72A):c.238A>G(p.Ile80Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 8/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001123168.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 18
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247528Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134606
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000103 AC: 15AN: 1458282Hom.: 0 Cov.: 30 AF XY: 0.00000965 AC XY: 7AN XY: 725416
GnomAD4 genome Cov.: 18
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.238A>G (p.I80V) alteration is located in exon 3 (coding exon 3) of the FAM72A gene. This alteration results from a A to G substitution at nucleotide position 238, causing the isoleucine (I) at amino acid position 80 to be replaced by a valine (V). 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