3-86968710-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000398399.7(VGLL3):c.817C>T(p.Pro273Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000421 in 1,614,050 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000398399.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VGLL3 | NM_016206.4 | c.817C>T | p.Pro273Ser | missense_variant | 3/4 | ENST00000398399.7 | NP_057290.2 | |
VGLL3 | NM_001320493.2 | c.817C>T | p.Pro273Ser | missense_variant | 3/4 | NP_001307422.1 | ||
VGLL3 | NM_001320494.2 | c.658C>T | p.Pro220Ser | missense_variant | 3/4 | NP_001307423.1 | ||
VGLL3 | XM_006713138.5 | c.814C>T | p.Pro272Ser | missense_variant | 3/4 | XP_006713201.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VGLL3 | ENST00000398399.7 | c.817C>T | p.Pro273Ser | missense_variant | 3/4 | 1 | NM_016206.4 | ENSP00000381436 | P1 | |
VGLL3 | ENST00000383698.3 | c.817C>T | p.Pro273Ser | missense_variant | 3/4 | 1 | ENSP00000373199 | |||
VGLL3 | ENST00000494229.1 | c.619C>T | p.Pro207Ser | missense_variant | 3/3 | 3 | ENSP00000419115 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000561 AC: 14AN: 249400Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135312
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1461882Hom.: 1 Cov.: 31 AF XY: 0.0000523 AC XY: 38AN XY: 727242
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 08, 2022 | The c.817C>T (p.P273S) alteration is located in exon 3 (coding exon 3) of the VGLL3 gene. This alteration results from a C to T substitution at nucleotide position 817, causing the proline (P) at amino acid position 273 to be replaced by a serine (S). 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