rs90951

Variant names:

• chr17-7078078-A-C
• rs90951
• NM_001330070.2:c.103T>G

Your query was ambiguous. Multiple possible variants found:

• chr17-7078078-A-C
• chr17-7078078-A-G

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_001330070.2(CLEC10A):​c.103T>G​(p.Cys35Gly) 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. 15/22 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: 31)
• Consequence: CLEC10A NM_001330070.2 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0250
• Publications: 32 publications found

Genes affected

CLEC10A (HGNC:16916): (C-type lectin domain containing 10A) This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.22064671).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CLEC10A	NM_001330070.2	c.103T>G	p.Cys35Gly	missense_variant	Exon 3 of 9	ENST00000416562.7	NP_001316999.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CLEC10A	ENST00000416562.7	c.103T>G	p.Cys35Gly	missense_variant	Exon 3 of 9	5	NM_001330070.2	ENSP00000414938.2
CLEC10A	ENST00000254868.8	c.103T>G	p.Cys35Gly	missense_variant	Exon 3 of 9	1		ENSP00000254868.4
CLEC10A	ENST00000571664.1	c.103T>G	p.Cys35Gly	missense_variant	Exon 3 of 9	1		ENSP00000460252.1
CLEC10A	ENST00000576617.5	c.103T>G	p.Cys35Gly	missense_variant	Exon 3 of 7	1		ENSP00000458728.1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD2 exomes AF: 0.00000398 AC: 1 AN: 251058 AF XY: 0.00000737

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.00

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.0000544

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.00

Gnomad OTH exome AF: 0.00

GnomAD4 exome Cov.: 35

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.072
BayesDel_addAF	Benign	-0.40	T
BayesDel_noAF	Benign	-0.64
CADD	Benign	15
DANN	Benign	0.61
DEOGEN2	Benign	0.039	T;.;.;.
Eigen	Benign	-1.1
Eigen_PC	Benign	-1.2
FATHMM_MKL	Benign	0.082	N
LIST_S2	Benign	0.32	T;T;T;T
M_CAP	Benign	0.027	D
MetaRNN	Benign	0.22	T;T;T;T
MetaSVM	Benign	-0.92	T
MutationAssessor	Benign	1.8	L;.;L;L
PhyloP100		-0.025
PrimateAI	Benign	0.17	T
PROVEAN	Pathogenic	-5.8	D;D;.;.
REVEL	Benign	0.062
Sift	Benign	0.068	T;T;.;.
Sift4G	Benign	0.11	T;T;T;T
Polyphen		0.024	B;.;B;B
Vest4		0.089
MutPred		0.66		Loss of helix (P = 0.0033);Loss of helix (P = 0.0033);Loss of helix (P = 0.0033);Loss of helix (P = 0.0033);
MVP		0.25
MPC		0.61
ClinPred		0.26	T
GERP RS		-0.38
Varity_R		0.16
gMVP		0.15

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs90951; hg19: chr17-6981397;