chr22-37759490-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000407319.7(TRIOBP):āc.1259A>Gā(p.Lys420Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0193 in 1,603,498 control chromosomes in the GnomAD database, including 4,560 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
ENST00000407319.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIOBP | NM_001039141.3 | c.6324+226A>G | intron_variant | ENST00000644935.1 | |||
TRIOBP | NM_138632.2 | c.1259A>G | p.Lys420Arg | missense_variant | 8/8 | ||
TRIOBP | NM_007032.5 | c.1185+226A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIOBP | ENST00000407319.7 | c.1259A>G | p.Lys420Arg | missense_variant | 8/8 | 1 | |||
TRIOBP | ENST00000644935.1 | c.6324+226A>G | intron_variant | NM_001039141.3 | A2 | ||||
TRIOBP | ENST00000403663.6 | c.1185+226A>G | intron_variant | 1 | P2 | ||||
TRIOBP | ENST00000344404.10 | c.*5807+226A>G | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0960 AC: 14599AN: 152054Hom.: 2405 Cov.: 33
GnomAD3 exomes AF: 0.0274 AC: 6756AN: 246744Hom.: 1019 AF XY: 0.0206 AC XY: 2757AN XY: 133822
GnomAD4 exome AF: 0.0113 AC: 16355AN: 1451326Hom.: 2148 Cov.: 29 AF XY: 0.00991 AC XY: 7160AN XY: 722652
GnomAD4 genome AF: 0.0962 AC: 14636AN: 152172Hom.: 2412 Cov.: 33 AF XY: 0.0932 AC XY: 6936AN XY: 74416
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 29, 2018 | - - |
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | May 24, 2018 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | May 07, 2012 | Lys420Arg in Exon 17A of TRIOBP: This variant is not expected to have clinical s ignificance because it has been identified in 32.4% (1210/3738) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs57799594). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at