Genetic Variant CCDC186:p.Thr85Ile (chr10-114163014-TG-AA) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

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

The NM_018017.4(CCDC186):c.254_255delCAinsTT(p.Thr85Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 33)

Consequence

CCDC186
NM_018017.4 missense

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.113

Publications

0 publications found

Variant links:

Genes affected

CCDC186 (HGNC:24349): (coiled-coil domain containing 186) Predicted to enable small GTPase binding activity. Predicted to be involved in vesicle cytoskeletal trafficking. Predicted to act upstream of or within insulin secretion involved in cellular response to glucose stimulus and response to bacterium. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]

CCDC186 links:

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new If you want to explore the variant's impact on the transcript NM_018017.4, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.

ACMG classification

Classification was made for transcript

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_018017.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
CCDC186	NM_018017.4	MANE Select	c.254_255delCAinsTT	p.Thr85Ile	missense	N/A	NP_060487.2
CCDC186	NM_001321829.1		c.254_255delCAinsTT	p.Thr85Ile	missense	N/A	NP_001308758.1	Q7Z3E2
CCDC186	NM_153249.1		c.254_255delCAinsTT	p.Thr85Ile	missense	N/A	NP_694981.1	Q7Z3E2

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
CCDC186	ENST00000369287.8	TSL:1 MANE Select	c.254_255delCAinsTT	p.Thr85Ile	missense	N/A	ENSP00000358293.3	Q7Z3E2
CCDC186	ENST00000369286.1	TSL:1	c.254_255delCAinsTT	p.Thr85Ile	missense	N/A	ENSP00000358292.1	A0A0C4DFU7
CCDC186	ENST00000648613.1		c.254_255delCAinsTT	p.Thr85Ile	missense	N/A	ENSP00000498136.1	Q7Z3E2

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

0.11

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over