rs76659072
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_025009.5(CEP135):c.3265T>A(p.Leu1089Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000426 in 1,613,780 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_025009.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CEP135 | NM_025009.5 | c.3265T>A | p.Leu1089Ile | missense_variant | Exon 24 of 26 | ENST00000257287.5 | NP_079285.2 | |
CEP135 | XM_006714055.4 | c.3232T>A | p.Leu1078Ile | missense_variant | Exon 24 of 26 | XP_006714118.1 | ||
CEP135 | XM_005265788.5 | c.2194T>A | p.Leu732Ile | missense_variant | Exon 17 of 19 | XP_005265845.1 | ||
CEP135 | XM_011534412.2 | c.1735T>A | p.Leu579Ile | missense_variant | Exon 14 of 16 | XP_011532714.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEP135 | ENST00000257287.5 | c.3265T>A | p.Leu1089Ile | missense_variant | Exon 24 of 26 | 1 | NM_025009.5 | ENSP00000257287.3 | ||
CEP135 | ENST00000506202.1 | n.3215T>A | non_coding_transcript_exon_variant | Exon 17 of 19 | 1 | |||||
CEP135 | ENST00000706801.1 | n.1330T>A | non_coding_transcript_exon_variant | Exon 8 of 10 |
Frequencies
GnomAD3 genomes AF: 0.00230 AC: 350AN: 152202Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000533 AC: 134AN: 251178Hom.: 0 AF XY: 0.000405 AC XY: 55AN XY: 135732
GnomAD4 exome AF: 0.000231 AC: 337AN: 1461460Hom.: 2 Cov.: 30 AF XY: 0.000204 AC XY: 148AN XY: 727032
GnomAD4 genome AF: 0.00230 AC: 351AN: 152320Hom.: 3 Cov.: 32 AF XY: 0.00216 AC XY: 161AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1Benign:1
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not provided Benign:2
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CEP135-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at