18-68715237-T-C

Position:

• chr18-68715237-T-C

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_Strong BP6_Very_Strong BA1

The NM_001093729.2(CCDC102B):​c.-240T>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.137 in 1,338,044 control chromosomes in the GnomAD database, including 21,772 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

• Frequency:
  • Genomes: 𝑓 0.27 (9148 hom., cov: 32)
  • Exomes 𝑓: 0.12 (12624 hom.)
• Consequence: CCDC102B NM_001093729.2 5_prime_UTR
• Clinical Significance: Benign criteria provided, multiple submitters, no conflicts B:2
• Conservation: PhyloP100: -0.575

Genes affected

CCDC102B (HGNC:26295): (coiled-coil domain containing 102B)

CCDC102B (HGNC:):

ACMG classification

Verdict is Benign. Variant got -20 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BP6: Variant 18-68715237-T-C is Benign according to our data. Variant chr18-68715237-T-C is described in ClinVar as [Benign]. Clinvar id is 1286457.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.61 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CCDC102B	NM_001093729.2	c.-240T>C		5_prime_UTR_variant	1/10		NP_001087198.2
CCDC102B	XM_017025973.2	c.-240T>C		5_prime_UTR_variant	1/11		XP_016881462.1
CCDC102B	XM_047437804.1	c.-291T>C		5_prime_UTR_variant	1/12		XP_047293760.1
CCDC102B	XM_047437806.1	c.-111T>C		5_prime_UTR_variant	1/8		XP_047293762.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CCDC102B	ENST00000578970.5	c.-258T>C		5_prime_UTR_variant	1/4	4		ENSP00000461987.1
CCDC102B	ENST00000582077.5	n.29T>C		non_coding_transcript_exon_variant	1/3	2
CCDC102B	ENST00000584775.5	c.-240T>C		upstream_gene_variant		1		ENSP00000463538.1
CCDC102B	ENST00000582371.5	c.-207T>C		upstream_gene_variant		3		ENSP00000463399.1

Frequencies

GnomAD3 genomes AF: 0.266 AC: 40398 AN: 151884 Hom.: 9120 Cov.: 32

Gnomad AFR AF: 0.617

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.213

Gnomad ASJ AF: 0.196

Gnomad EAS AF: 0.179

Gnomad SAS AF: 0.0667

Gnomad FIN AF: 0.146

Gnomad MID AF: 0.179

Gnomad NFE AF: 0.108

Gnomad OTH AF: 0.244

GnomAD4 exome AF: 0.121 AC: 143181 AN: 1186042 Hom.: 12624 Cov.: 30 AF XY: 0.118 AC XY: 67625 AN XY: 570992

Gnomad4 AFR exome AF: 0.643

Gnomad4 AMR exome AF: 0.214

Gnomad4 ASJ exome AF: 0.200

Gnomad4 EAS exome AF: 0.205

Gnomad4 SAS exome AF: 0.0614

Gnomad4 FIN exome AF: 0.121

Gnomad4 NFE exome AF: 0.105

Gnomad4 OTH exome AF: 0.148

GnomAD4 genome AF: 0.266 AC: 40483 AN: 152002 Hom.: 9148 Cov.: 32 AF XY: 0.263 AC XY: 19514 AN XY: 74320

Gnomad4 AFR AF: 0.617

Gnomad4 AMR AF: 0.213

Gnomad4 ASJ AF: 0.196

Gnomad4 EAS AF: 0.179

Gnomad4 SAS AF: 0.0661

Gnomad4 FIN AF: 0.146

Gnomad4 NFE AF: 0.108

Gnomad4 OTH AF: 0.245

Alfa AF: 0.0883 Hom.: 176

Bravo AF: 0.292

Asia WGS AF: 0.189 AC: 658 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:2

Benign, criteria provided, single submitter	clinical testing	GeneDx	Nov 12, 2018	- -
Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	3.6
DANN	Benign	0.43

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

Publications

LitVar

Other links and lift over

dbSNP: rs309248; hg19: chr18-66382474;