rs41307798
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007272.3(CTRC):c.285C>A(p.Asp95Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D95D) has been classified as Likely benign.
Frequency
Consequence
NM_007272.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTRC | ENST00000375949.5 | c.285C>A | p.Asp95Glu | missense_variant | Exon 4 of 8 | 1 | NM_007272.3 | ENSP00000365116.4 | ||
CTRC | ENST00000375943.6 | c.95C>A | p.Thr32Lys | missense_variant | Exon 2 of 5 | 1 | ENSP00000365110.2 | |||
CTRC | ENST00000476813.5 | n.107C>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 3 | |||||
CTRC | ENST00000483406.1 | n.195C>A | non_coding_transcript_exon_variant | Exon 3 of 6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.