9-71745180-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013390.3(CEMIP2):c.872G>A(p.Arg291His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.23 in 1,613,786 control chromosomes in the GnomAD database, including 44,492 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R291L) has been classified as Likely benign.
Frequency
Consequence
NM_013390.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CEMIP2 | NM_013390.3 | c.872G>A | p.Arg291His | missense_variant | 4/24 | ENST00000377044.9 | NP_037522.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEMIP2 | ENST00000377044.9 | c.872G>A | p.Arg291His | missense_variant | 4/24 | 1 | NM_013390.3 | ENSP00000366243.4 | ||
CEMIP2 | ENST00000377066.9 | c.872G>A | p.Arg291His | missense_variant | 4/23 | 1 | ENSP00000366266.5 | |||
CEMIP2 | ENST00000542935.5 | n.872G>A | non_coding_transcript_exon_variant | 4/24 | 1 | ENSP00000437750.1 |
Frequencies
GnomAD3 genomes AF: 0.256 AC: 38804AN: 151814Hom.: 5328 Cov.: 31
GnomAD3 exomes AF: 0.240 AC: 60214AN: 251268Hom.: 7710 AF XY: 0.242 AC XY: 32862AN XY: 135796
GnomAD4 exome AF: 0.227 AC: 332274AN: 1461854Hom.: 39149 Cov.: 34 AF XY: 0.230 AC XY: 167230AN XY: 727228
GnomAD4 genome AF: 0.256 AC: 38860AN: 151932Hom.: 5343 Cov.: 31 AF XY: 0.261 AC XY: 19381AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at