2-196773142-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012086.5(GTF3C3):c.1843G>A(p.Val615Met) variant causes a missense change. The variant allele was found at a frequency of 0.000000695 in 1,438,808 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012086.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GTF3C3 | ENST00000263956.8 | c.1843G>A | p.Val615Met | missense_variant | Exon 14 of 18 | 1 | NM_012086.5 | ENSP00000263956.3 | ||
GTF3C3 | ENST00000416690.5 | c.190G>A | p.Val64Met | missense_variant | Exon 4 of 4 | 3 | ENSP00000391724.1 | |||
GTF3C3 | ENST00000651042.1 | n.*175G>A | non_coding_transcript_exon_variant | Exon 15 of 19 | ENSP00000499170.1 | |||||
GTF3C3 | ENST00000651042.1 | n.*175G>A | 3_prime_UTR_variant | Exon 15 of 19 | ENSP00000499170.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.95e-7 AC: 1AN: 1438808Hom.: 0 Cov.: 26 AF XY: 0.00 AC XY: 0AN XY: 716292
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1843G>A (p.V615M) alteration is located in exon 14 (coding exon 14) of the GTF3C3 gene. This alteration results from a G to A substitution at nucleotide position 1843, causing the valine (V) at amino acid position 615 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.