rs774036076
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001114753.3(ENG):āc.1293G>Cā(p.Ser431=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,024 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. Synonymous variant affecting the same amino acid position (i.e. S431S) has been classified as Likely benign.
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.1293G>C | p.Ser431= | synonymous_variant | 10/15 | ENST00000373203.9 | |
LOC102723566 | NR_136302.1 | n.1568+929C>G | intron_variant, non_coding_transcript_variant | ||||
ENG | NM_000118.4 | c.1293G>C | p.Ser431= | synonymous_variant | 10/14 | ||
ENG | NM_001278138.2 | c.747G>C | p.Ser249= | synonymous_variant | 10/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENG | ENST00000373203.9 | c.1293G>C | p.Ser431= | synonymous_variant | 10/15 | 1 | NM_001114753.3 | P2 | |
ENST00000439298.5 | n.1568+929C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245738Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133076
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460024Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726088
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at