14-77025494-C-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBS1_SupportingBS2
The NM_024496.4(IRF2BPL):āc.2299G>Cā(p.Val767Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,788 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_024496.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152262Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250936Hom.: 1 AF XY: 0.0000221 AC XY: 3AN XY: 135632
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461408Hom.: 1 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 726992
GnomAD4 genome AF: 0.000112 AC: 17AN: 152380Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74510
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.2299G>C (p.V767L) alteration is located in exon 1 (coding exon 1) of the IRF2BPL gene. This alteration results from a G to C substitution at nucleotide position 2299, causing the valine (V) at amino acid position 767 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
IRF2BPL-related disorder Benign:1
This variant is classified as likely 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