NM_007146.3:c.1312A>G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_007146.3(VEZF1):c.1312A>G(p.Ser438Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,614,076 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007146.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VEZF1 | ENST00000581208.2 | c.1312A>G | p.Ser438Gly | missense_variant | Exon 6 of 6 | 1 | NM_007146.3 | ENSP00000462337.1 | ||
VEZF1 | ENST00000258963.7 | c.766A>G | p.Ser256Gly | missense_variant | Exon 5 of 5 | 1 | ENSP00000258963.3 | |||
VEZF1 | ENST00000584396.5 | c.1285A>G | p.Ser429Gly | missense_variant | Exon 6 of 6 | 5 | ENSP00000464687.1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251476Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135910
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727244
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1312A>G (p.S438G) alteration is located in exon 6 (coding exon 6) of the VEZF1 gene. This alteration results from a A to G substitution at nucleotide position 1312, causing the serine (S) at amino acid position 438 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at