rs1041985
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001792.5(CDH2):c.2448C>T(p.Ala816=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.317 in 1,612,960 control chromosomes in the GnomAD database, including 83,389 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. A816A) has been classified as Likely benign.
Frequency
Consequence
NM_001792.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDH2 | NM_001792.5 | c.2448C>T | p.Ala816= | synonymous_variant | 15/16 | ENST00000269141.8 | |
CDH2 | NM_001308176.2 | c.2355C>T | p.Ala785= | synonymous_variant | 14/15 | ||
CDH2 | XM_017025514.3 | c.2448C>T | p.Ala816= | synonymous_variant | 15/16 | ||
CDH2 | XM_011525788.1 | c.2193C>T | p.Ala731= | synonymous_variant | 15/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDH2 | ENST00000269141.8 | c.2448C>T | p.Ala816= | synonymous_variant | 15/16 | 1 | NM_001792.5 | P1 | |
ENST00000423367.2 | n.375G>A | non_coding_transcript_exon_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.294 AC: 44609AN: 151766Hom.: 7122 Cov.: 31
GnomAD3 exomes AF: 0.342 AC: 85845AN: 251212Hom.: 15458 AF XY: 0.340 AC XY: 46221AN XY: 135760
GnomAD4 exome AF: 0.319 AC: 466246AN: 1461076Hom.: 76257 Cov.: 35 AF XY: 0.321 AC XY: 233129AN XY: 726854
GnomAD4 genome ? AF: 0.294 AC: 44635AN: 151884Hom.: 7132 Cov.: 31 AF XY: 0.298 AC XY: 22135AN XY: 74222
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 04, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at