rs2824495
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001100420.2(C21orf91):āc.345C>Gā(p.Asn115Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.214 in 1,612,780 control chromosomes in the GnomAD database, including 38,576 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/17 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.
Frequency
Consequence
NM_001100420.2 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 | UniProt |
---|---|---|---|---|---|---|---|
C21orf91 | NM_001100420.2 | c.345C>G | p.Asn115Lys | missense_variant | 3/5 | ENST00000284881.9 | |
LOC124900465 | XR_007067823.1 | n.1605+40112G>C | intron_variant, non_coding_transcript_variant | ||||
C21orf91 | NM_017447.4 | c.345C>G | p.Asn115Lys | missense_variant | 3/5 | ||
C21orf91 | NM_001100421.2 | c.345C>G | p.Asn115Lys | missense_variant | 3/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C21orf91 | ENST00000284881.9 | c.345C>G | p.Asn115Lys | missense_variant | 3/5 | 2 | NM_001100420.2 | P4 | |
ENST00000428689.5 | n.71+3343G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.208 AC: 31618AN: 151978Hom.: 3483 Cov.: 32
GnomAD3 exomes AF: 0.217 AC: 54042AN: 249026Hom.: 6466 AF XY: 0.211 AC XY: 28559AN XY: 135134
GnomAD4 exome AF: 0.215 AC: 314156AN: 1460684Hom.: 35089 Cov.: 33 AF XY: 0.213 AC XY: 154523AN XY: 726766
GnomAD4 genome ? AF: 0.208 AC: 31630AN: 152096Hom.: 3487 Cov.: 32 AF XY: 0.206 AC XY: 15327AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at