CCDC198 p.Ala190Ala

Variant names:

• chr14-57480679-T-T
• NM_018168.4:c.

Your query was ambiguous. Multiple possible variants found:

• chr14-57480680--
• chr14-57480680-G-A
• chr14-57480680-G-T
• chr14-57480680-G-C

Variant summary

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

The NM_018168.4(CCDC198):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: CCDC198 NM_018168.4 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.278
• Publications: 0 publications found

Genes affected

CCDC198 (HGNC:20189): (coiled-coil domain containing 198)

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_018168.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCDC198	NM_018168.4	MANE Select	c.		exon_region	Exon 5 of 6	NP_060638.2	Q9NVL8
	CCDC198	NM_001283056.2		c.		exon_region	Exon 5 of 7	NP_001269985.1	F5GWJ3
	CCDC198	NM_001283057.2		c.		exon_region	Exon 5 of 6	NP_001269986.1	E9PSE9

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCDC198	ENST00000216445.8	TSL:1 MANE Select	c.		exon_region	Exon 5 of 6	ENSP00000216445.3	Q9NVL8
	CCDC198	ENST00000422976.6	TSL:1	c.		exon_region	Exon 5 of 7	ENSP00000392368.2	F5GWJ3
	CCDC198	ENST00000534126.5	TSL:1	c.		exon_region	Exon 5 of 6	ENSP00000434003.1	E9PSE9

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.28

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.

Other links and lift over

hg19: chr14-57947397;