chr11-618042-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_021924.5(CDHR5):c.2030C>T(p.Ala677Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,459,496 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021924.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDHR5 | NM_021924.5 | c.2030C>T | p.Ala677Val | missense_variant | 14/15 | ENST00000397542.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDHR5 | ENST00000397542.7 | c.2030C>T | p.Ala677Val | missense_variant | 14/15 | 1 | NM_021924.5 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000813 AC: 2AN: 245892Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133752
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459496Hom.: 0 Cov.: 35 AF XY: 0.00000413 AC XY: 3AN XY: 726080
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 11, 2023 | The c.2030C>T (p.A677V) alteration is located in exon 14 (coding exon 14) of the CDHR5 gene. This alteration results from a C to T substitution at nucleotide position 2030, causing the alanine (A) at amino acid position 677 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at