chr18-74567390-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_032649.6(CNDP1):c.713C>T(p.Ala238Val) variant causes a missense change. The variant allele was found at a frequency of 0.00374 in 1,614,098 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A238G) has been classified as Uncertain significance.
Frequency
Consequence
NM_032649.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNDP1 | NM_032649.6 | c.713C>T | p.Ala238Val | missense_variant | 6/12 | ENST00000358821.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNDP1 | ENST00000358821.8 | c.713C>T | p.Ala238Val | missense_variant | 6/12 | 1 | NM_032649.6 | P1 | |
CNDP1 | ENST00000582365.1 | c.584C>T | p.Ala195Val | missense_variant | 5/11 | 5 | |||
CNDP1 | ENST00000584004.5 | n.237C>T | non_coding_transcript_exon_variant | 1/7 | 2 | ||||
CNDP1 | ENST00000584316.5 | c.*181C>T | 3_prime_UTR_variant, NMD_transcript_variant | 3/5 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00371 AC: 564AN: 152186Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00444 AC: 1117AN: 251370Hom.: 10 AF XY: 0.00458 AC XY: 622AN XY: 135854
GnomAD4 exome AF: 0.00374 AC: 5474AN: 1461794Hom.: 23 Cov.: 31 AF XY: 0.00385 AC XY: 2797AN XY: 727198
GnomAD4 genome AF: 0.00370 AC: 563AN: 152304Hom.: 2 Cov.: 33 AF XY: 0.00359 AC XY: 267AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at