rs11659237
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032649.6(CNDP1):c.1310-35T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,452,432 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. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_032649.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNDP1 | NM_032649.6 | c.1310-35T>A | intron_variant | ENST00000358821.8 | NP_116038.4 | |||
LOC124904324 | XR_007066415.1 | n.152A>T | non_coding_transcript_exon_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNDP1 | ENST00000358821.8 | c.1310-35T>A | intron_variant | 1 | NM_032649.6 | ENSP00000351682.3 | ||||
CNDP1 | ENST00000582365.1 | c.1181-35T>A | intron_variant | 5 | ENSP00000462096.1 | |||||
CNDP1 | ENST00000582461.1 | n.2191-35T>A | intron_variant | 5 | ||||||
CNDP1 | ENST00000584004.5 | n.834-35T>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1452432Hom.: 0 Cov.: 27 AF XY: 0.00000138 AC XY: 1AN XY: 722570
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at