6-24357568-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_016356.5(DCDC2):c.183C>G(p.Ala61=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,613,218 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. Synonymous variant affecting the same amino acid position (i.e. A61A) has been classified as Benign.
Frequency
Consequence
NM_016356.5 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 |
---|---|---|---|---|---|---|---|
DCDC2 | NM_016356.5 | c.183C>G | p.Ala61= | synonymous_variant | 1/10 | ENST00000378454.8 | |
KAAG1 | NR_174942.1 | n.666G>C | non_coding_transcript_exon_variant | 1/1 | |||
DCDC2 | NM_001195610.2 | c.183C>G | p.Ala61= | synonymous_variant | 2/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DCDC2 | ENST00000378454.8 | c.183C>G | p.Ala61= | synonymous_variant | 1/10 | 1 | NM_016356.5 | P1 | |
KAAG1 | ENST00000274766.2 | n.666G>C | non_coding_transcript_exon_variant | 1/1 | |||||
DCDC2 | ENST00000436313.1 | c.87C>G | p.Ala29= | synonymous_variant | 1/3 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152038Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461180Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726900
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152038Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at