rs3190321
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_015914.7(TXNDC11):āc.2266G>Cā(p.Val756Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.534 in 1,612,060 control chromosomes in the GnomAD database, including 233,485 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_015914.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TXNDC11 | NM_015914.7 | c.2266G>C | p.Val756Leu | missense_variant | 12/12 | ENST00000283033.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TXNDC11 | ENST00000283033.10 | c.2266G>C | p.Val756Leu | missense_variant | 12/12 | 2 | NM_015914.7 | P2 | |
TXNDC11 | ENST00000356957.7 | c.2347G>C | p.Val783Leu | missense_variant | 13/13 | 1 | A2 | ||
TXNDC11 | ENST00000570917.5 | n.476G>C | non_coding_transcript_exon_variant | 5/5 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.506 AC: 76850AN: 151738Hom.: 19957 Cov.: 31
GnomAD3 exomes AF: 0.500 AC: 125615AN: 250996Hom.: 32904 AF XY: 0.510 AC XY: 69220AN XY: 135730
GnomAD4 exome AF: 0.537 AC: 784283AN: 1460204Hom.: 213509 Cov.: 48 AF XY: 0.537 AC XY: 390218AN XY: 726236
GnomAD4 genome ? AF: 0.506 AC: 76899AN: 151856Hom.: 19976 Cov.: 31 AF XY: 0.504 AC XY: 37443AN XY: 74220
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at