rs773748110
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001114753.3(ENG):c.1020G>T(p.Pro340Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,452,996 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001114753.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.1020G>T | p.Pro340Pro | synonymous_variant | Exon 8 of 15 | ENST00000373203.9 | NP_001108225.1 | |
ENG | NM_000118.4 | c.1020G>T | p.Pro340Pro | synonymous_variant | Exon 8 of 14 | NP_000109.1 | ||
ENG | NM_001278138.2 | c.474G>T | p.Pro158Pro | synonymous_variant | Exon 8 of 15 | NP_001265067.1 | ||
ENG | NM_001406715.1 | c.1020G>T | p.Pro340Pro | synonymous_variant | Exon 8 of 8 | NP_001393644.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENG | ENST00000373203.9 | c.1020G>T | p.Pro340Pro | synonymous_variant | Exon 8 of 15 | 1 | NM_001114753.3 | ENSP00000362299.4 | ||
ENG | ENST00000344849.4 | c.1020G>T | p.Pro340Pro | synonymous_variant | Exon 8 of 14 | 1 | ENSP00000341917.3 | |||
ENG | ENST00000480266.6 | c.474G>T | p.Pro158Pro | synonymous_variant | Exon 8 of 15 | 2 | ENSP00000479015.1 | |||
ENG | ENST00000486329.1 | n.-13G>T | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1452996Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 722830
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.