rs1057521592
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004360.5(CDH1):c.147C>A(p.Gly49=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. G49G) has been classified as Likely benign.
Frequency
Consequence
NM_004360.5 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 |
---|---|---|---|---|---|---|---|
CDH1 | NM_004360.5 | c.147C>A | p.Gly49= | synonymous_variant | 2/16 | ENST00000261769.10 | |
CDH1 | NM_001317184.2 | c.147C>A | p.Gly49= | synonymous_variant | 2/15 | ||
CDH1 | NM_001317185.2 | c.-1469C>A | 5_prime_UTR_variant | 2/16 | |||
CDH1 | NM_001317186.2 | c.-1673C>A | 5_prime_UTR_variant | 2/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH1 | ENST00000261769.10 | c.147C>A | p.Gly49= | synonymous_variant | 2/16 | 1 | NM_004360.5 | P1 | |
CDH1 | ENST00000422392.6 | c.147C>A | p.Gly49= | synonymous_variant | 2/15 | 1 | |||
CDH1 | ENST00000566612.5 | c.147C>A | p.Gly49= | synonymous_variant, NMD_transcript_variant | 2/15 | 1 | |||
CDH1 | ENST00000566510.5 | c.147C>A | p.Gly49= | synonymous_variant, NMD_transcript_variant | 2/15 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1397452Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 689156
GnomAD4 genome ? Cov.: 32
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.