17-57979243-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_007146.3(VEZF1):c.1023_1046dupGCAGCAGCAGCAGCAGCAGCAGCA(p.Gln342_Gln349dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000501 in 1,597,100 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. Q349Q) has been classified as Likely benign.
Frequency
Consequence
NM_007146.3 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VEZF1 | ENST00000581208.2 | c.1023_1046dupGCAGCAGCAGCAGCAGCAGCAGCA | p.Gln342_Gln349dup | disruptive_inframe_insertion | Exon 5 of 6 | 1 | NM_007146.3 | ENSP00000462337.1 | ||
VEZF1 | ENST00000258963.7 | c.477_500dupGCAGCAGCAGCAGCAGCAGCAGCA | p.Gln160_Gln167dup | disruptive_inframe_insertion | Exon 4 of 5 | 1 | ENSP00000258963.3 | |||
VEZF1 | ENST00000584396.5 | c.996_1019dupGCAGCAGCAGCAGCAGCAGCAGCA | p.Gln333_Gln340dup | disruptive_inframe_insertion | Exon 5 of 6 | 5 | ENSP00000464687.1 |
Frequencies
GnomAD3 genomes AF: 0.0000465 AC: 7AN: 150648Hom.: 0 Cov.: 28
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1446340Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 719532
GnomAD4 genome AF: 0.0000464 AC: 7AN: 150760Hom.: 0 Cov.: 28 AF XY: 0.0000407 AC XY: 3AN XY: 73668
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at