rs8177400
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 1P and 9B. PP3BP4_StrongBP6BS2
The NM_001318777.2(TIRAP):c.286G>A(p.Asp96Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00226 in 1,613,862 control chromosomes in the GnomAD database, including 16 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001318777.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.286G>A | p.Asp96Asn | missense_variant | 4/5 | ENST00000392679.6 | |
TIRAP | NM_001318776.2 | c.286G>A | p.Asp96Asn | missense_variant | 4/4 | ||
TIRAP | NM_148910.3 | c.286G>A | p.Asp96Asn | missense_variant | 5/5 | ||
TIRAP | NM_001039661.2 | c.286G>A | p.Asp96Asn | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TIRAP | ENST00000392679.6 | c.286G>A | p.Asp96Asn | missense_variant | 4/5 | 2 | NM_001318777.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00213 AC: 324AN: 152218Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00276 AC: 691AN: 250018Hom.: 4 AF XY: 0.00313 AC XY: 423AN XY: 135254
GnomAD4 exome AF: 0.00227 AC: 3316AN: 1461526Hom.: 15 Cov.: 31 AF XY: 0.00250 AC XY: 1821AN XY: 727032
GnomAD4 genome AF: 0.00214 AC: 326AN: 152336Hom.: 1 Cov.: 32 AF XY: 0.00189 AC XY: 141AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, University Medical Center Utrecht | - | - - |
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at