chr12-26122222-C-CGCG
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PM4_SupportingBP6BS2
The NM_030762.3(BHLHE41):c.1290_1292dupCGC(p.Ala431dup) variant causes a disruptive inframe insertion change. The variant allele was found at a frequency of 0.000484 in 1,302,010 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_030762.3 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BHLHE41 | NM_030762.3 | c.1290_1292dupCGC | p.Ala431dup | disruptive_inframe_insertion | Exon 5 of 5 | ENST00000242728.5 | NP_110389.1 | |
SSPN | XM_011520853.4 | c.-31+80_-31+82dupGCG | intron_variant | Intron 1 of 2 | XP_011519155.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BHLHE41 | ENST00000242728.5 | c.1290_1292dupCGC | p.Ala431dup | disruptive_inframe_insertion | Exon 5 of 5 | 1 | NM_030762.3 | ENSP00000242728.4 | ||
SSPN | ENST00000538142.5 | c.-31+80_-31+82dupGCG | intron_variant | Intron 1 of 2 | 4 | ENSP00000445360.1 | ||||
SSPN | ENST00000534829.5 | n.101+80_101+82dupGCG | intron_variant | Intron 1 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000518 AC: 78AN: 150464Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.000479 AC: 552AN: 1151440Hom.: 0 Cov.: 30 AF XY: 0.000502 AC XY: 278AN XY: 554154
GnomAD4 genome AF: 0.000518 AC: 78AN: 150570Hom.: 0 Cov.: 30 AF XY: 0.000517 AC XY: 38AN XY: 73512
ClinVar
Submissions by phenotype
BHLHE41-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