9-127818372-T-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001114753.3(ENG):āc.1434A>Gā(p.Arg478=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,218 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.1434A>G | p.Arg478= | synonymous_variant | 12/15 | ENST00000373203.9 | |
LOC102723566 | NR_136302.1 | n.1439T>C | non_coding_transcript_exon_variant | 3/6 | |||
ENG | NM_000118.4 | c.1434A>G | p.Arg478= | synonymous_variant | 12/14 | ||
ENG | NM_001278138.2 | c.888A>G | p.Arg296= | synonymous_variant | 12/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENG | ENST00000373203.9 | c.1434A>G | p.Arg478= | synonymous_variant | 12/15 | 1 | NM_001114753.3 | P2 | |
ENST00000439298.5 | n.1439T>C | non_coding_transcript_exon_variant | 3/6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248242Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134512
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461218Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726862
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at