chr14-77025590-T-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_024496.4(IRF2BPL):c.2203A>T(p.Ser735Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00224 in 1,607,468 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_024496.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00134 AC: 204AN: 152226Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00109 AC: 267AN: 244974Hom.: 0 AF XY: 0.00102 AC XY: 135AN XY: 132598
GnomAD4 exome AF: 0.00234 AC: 3400AN: 1455124Hom.: 5 Cov.: 31 AF XY: 0.00230 AC XY: 1662AN XY: 723708
GnomAD4 genome AF: 0.00134 AC: 204AN: 152344Hom.: 1 Cov.: 32 AF XY: 0.00132 AC XY: 98AN XY: 74496
ClinVar
Submissions by phenotype
not provided Benign:3
IRF2BPL: BS1 -
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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