chr9-134909977-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM1BP4_StrongBS2
The NM_002003.5(FCN1):āc.802T>Cā(p.Ser268Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00183 in 1,614,110 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002003.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000953 AC: 145AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00114 AC: 287AN: 251494Hom.: 1 AF XY: 0.00126 AC XY: 171AN XY: 135920
GnomAD4 exome AF: 0.00192 AC: 2810AN: 1461874Hom.: 7 Cov.: 34 AF XY: 0.00193 AC XY: 1405AN XY: 727236
GnomAD4 genome AF: 0.000959 AC: 146AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.000927 AC XY: 69AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene associated with immunodeficiency. However, the variant has high frequency and there is only 1 paper which describes a correlation between presence of this variant and M-ficolin levels. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at