chr11-2299544-C-G

Variant names:

• chr11-2299544-C-G
• NM_001329958.2:c.311G>C

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_001329958.2(C11orf21):​c.311G>C​(p.Arg104Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000715 in 1,398,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 33)
  • Exomes 𝑓: 7.2e-7 (0 hom.)
• Consequence: C11orf21 NM_001329958.2 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.121

Genes affected

C11orf21 (HGNC:13231): (chromosome 11 open reading frame 21) Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.11223468).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
C11orf21	NM_001329958.2	c.311G>C	p.Arg104Pro	missense_variant	Exon 3 of 4	ENST00000381153.8	NP_001316887.1
C11orf21	NM_001142946.3	c.449G>C	p.Arg150Pro	missense_variant	Exon 4 of 5		NP_001136418.1
C11orf21	NR_138249.2	n.423G>C		non_coding_transcript_exon_variant	Exon 2 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
C11orf21	ENST00000381153.8	c.311G>C	p.Arg104Pro	missense_variant	Exon 3 of 4	1	NM_001329958.2	ENSP00000370545.4
C11orf21	ENST00000456145.2	c.449G>C	p.Arg150Pro	missense_variant	Exon 4 of 5	1		ENSP00000406541.2
C11orf21	ENST00000470369.1	n.1353G>C		non_coding_transcript_exon_variant	Exon 2 of 2	5
C11orf21	ENST00000495467.1	n.332G>C		non_coding_transcript_exon_variant	Exon 2 of 3	4

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome AF: 7.15e-7 AC: 1 AN: 1398380 Hom.: 0 Cov.: 31 AF XY: 0.00000145 AC XY: 1 AN XY: 689686

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.0000280

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Uncertain	0.39
BayesDel_addAF	Benign	-0.061	T
BayesDel_noAF	Benign	-0.33
CADD	Benign	11
DANN	Benign	0.82
DEOGEN2	Benign	0.052	T;.
Eigen	Benign	-1.0
Eigen_PC	Benign	-1.2
FATHMM_MKL	Benign	0.018	N
LIST_S2	Benign	0.42	T;T
M_CAP	Benign	0.0014	T
MetaRNN	Benign	0.11	T;T
MetaSVM	Benign	-1.0	T
MutationAssessor	Benign	0.0	N;.
PROVEAN	Pathogenic	-7.0	D;D
REVEL	Benign	0.10
Sift	Pathogenic	0.0	D;D
Sift4G	Benign	0.21	T;T
Polyphen		0.91	P;P
Vest4		0.25
MutPred		0.30		.;Loss of stability (P = 0.0398);
MVP		0.21
ClinPred		0.25	T
GERP RS		-2.2
Varity_R		0.49

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr11-2320774;