chr21-17565675-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001338.5(CXADR):c.1081G>A(p.Asp361Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D361E) has been classified as Uncertain significance.
Frequency
Consequence
NM_001338.5 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 |
---|---|---|---|---|---|---|---|
CXADR | NM_001338.5 | c.1081G>A | p.Asp361Asn | missense_variant | 7/7 | ENST00000284878.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CXADR | ENST00000284878.12 | c.1081G>A | p.Asp361Asn | missense_variant | 7/7 | 1 | NM_001338.5 | P2 | |
CXADR | ENST00000400166.5 | c.*60G>A | 3_prime_UTR_variant | 5/5 | 1 | ||||
CXADR | ENST00000400169.1 | c.1017+64G>A | intron_variant | 5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249572Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135224
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.85e-7 AC: 1AN: 1459704Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726166
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 02, 2023 | The c.1081G>A (p.D361N) alteration is located in exon 7 (coding exon 7) of the CXADR gene. This alteration results from a G to A substitution at nucleotide position 1081, causing the aspartic acid (D) at amino acid position 361 to be replaced by an asparagine (N). 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