2-186751236-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_177454.4(FAM171B):c.827C>T(p.Pro276Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000115 in 1,611,472 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_177454.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251054Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135700
GnomAD4 exome AF: 0.000124 AC: 181AN: 1459318Hom.: 0 Cov.: 30 AF XY: 0.000121 AC XY: 88AN XY: 725958
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.827C>T (p.P276L) alteration is located in exon 5 (coding exon 5) of the FAM171B gene. This alteration results from a C to T substitution at nucleotide position 827, causing the proline (P) at amino acid position 276 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