14-75635001-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017791.3(FLVCR2):c.1112C>G(p.Ser371Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000133 in 1,608,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017791.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251172Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135738
GnomAD4 exome AF: 0.000139 AC: 202AN: 1456714Hom.: 0 Cov.: 29 AF XY: 0.000131 AC XY: 95AN XY: 725054
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152118Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74324
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1112C>G (p.S371C) alteration is located in exon 5 (coding exon 5) of the FLVCR2 gene. This alteration results from a C to G substitution at nucleotide position 1112, causing the serine (S) at amino acid position 371 to be replaced by a cysteine (C). 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