rs484870
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_198534.3(TEX45):āc.767A>Gā(p.Asp256Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.366 in 1,613,120 control chromosomes in the GnomAD database, including 110,227 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_198534.3 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 |
---|---|---|---|---|---|---|---|
TEX45 | NM_198534.3 | c.767A>G | p.Asp256Gly | missense_variant | 4/9 | ENST00000361664.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SAXO5 | ENST00000361664.7 | c.767A>G | p.Asp256Gly | missense_variant | 4/9 | 1 | NM_198534.3 | P1 | |
SAXO5 | ENST00000596524.1 | c.231+172A>G | intron_variant, NMD_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.385 AC: 58478AN: 151854Hom.: 11716 Cov.: 31
GnomAD3 exomes AF: 0.347 AC: 87110AN: 251194Hom.: 15818 AF XY: 0.342 AC XY: 46495AN XY: 135838
GnomAD4 exome AF: 0.364 AC: 531490AN: 1461150Hom.: 98493 Cov.: 37 AF XY: 0.360 AC XY: 261496AN XY: 726910
GnomAD4 genome AF: 0.385 AC: 58540AN: 151970Hom.: 11734 Cov.: 31 AF XY: 0.379 AC XY: 28154AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at