chr16-8859243-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014316.4(CARHSP1):āc.86G>Cā(p.Arg29Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000937 in 1,600,594 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R29H) has been classified as Uncertain significance.
Frequency
Consequence
NM_014316.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CARHSP1 | NM_014316.4 | c.86G>C | p.Arg29Pro | missense_variant | 2/4 | ENST00000311052.10 | |
LOC100130283 | NR_147908.1 | n.635-885C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CARHSP1 | ENST00000311052.10 | c.86G>C | p.Arg29Pro | missense_variant | 2/4 | 1 | NM_014316.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000142 AC: 2AN: 140768Hom.: 0 Cov.: 26
GnomAD4 exome AF: 0.00000891 AC: 13AN: 1459826Hom.: 0 Cov.: 34 AF XY: 0.00000551 AC XY: 4AN XY: 726262
GnomAD4 genome AF: 0.0000142 AC: 2AN: 140768Hom.: 0 Cov.: 26 AF XY: 0.00 AC XY: 0AN XY: 67304
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 05, 2023 | The c.86G>C (p.R29P) alteration is located in exon 2 (coding exon 1) of the CARHSP1 gene. This alteration results from a G to C substitution at nucleotide position 86, causing the arginine (R) at amino acid position 29 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at