chr1-151612258-T-TGGC
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_001330723.2(SNX27):c.69_71dupCGG(p.Gly24dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00421 in 1,440,430 control chromosomes in the GnomAD database, including 16 homozygotes. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. G24G) has been classified as Likely benign.
Frequency
Consequence
NM_001330723.2 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00426 AC: 645AN: 151502Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00373 AC: 178AN: 47704Hom.: 1 AF XY: 0.00342 AC XY: 93AN XY: 27186
GnomAD4 exome AF: 0.00421 AC: 5420AN: 1288822Hom.: 14 Cov.: 31 AF XY: 0.00423 AC XY: 2675AN XY: 632138
GnomAD4 genome AF: 0.00425 AC: 645AN: 151608Hom.: 2 Cov.: 32 AF XY: 0.00466 AC XY: 345AN XY: 74098
ClinVar
Submissions by phenotype
Severe myoclonic epilepsy in infancy Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 02, 2025 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at