rs571288423
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_017950.4(CCDC40):c.1860C>G(p.Gly620=) 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. G620G) has been classified as Likely benign.
Frequency
Consequence
NM_017950.4 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 |
---|---|---|---|---|---|---|---|
CCDC40 | NM_017950.4 | c.1860C>G | p.Gly620= | synonymous_variant | 12/20 | ENST00000397545.9 | |
CCDC40 | NM_001243342.2 | c.1860C>G | p.Gly620= | synonymous_variant | 12/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCDC40 | ENST00000397545.9 | c.1860C>G | p.Gly620= | synonymous_variant | 12/20 | 5 | NM_017950.4 | P2 | |
CCDC40 | ENST00000574799.5 | n.1397C>G | non_coding_transcript_exon_variant | 8/16 | 1 | ||||
CCDC40 | ENST00000374877.7 | c.1860C>G | p.Gly620= | synonymous_variant | 12/18 | 5 | A2 | ||
CCDC40 | ENST00000572253.5 | n.487C>G | non_coding_transcript_exon_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at