rs1982040

Variant names:

• chr18-69027979-A-G
• rs1982040
• NM_024781.3:c.1434+16875A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_024781.3(CCDC102B):​c.1434+16875A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.824 in 152,096 control chromosomes in the GnomAD database, including 53,881 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.82 (53881 hom., cov: 32)
• Consequence: CCDC102B NM_024781.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.102
• Publications: 3 publications found

Genes affected

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

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.949 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_024781.3. 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
	CCDC102B	NM_024781.3	MANE Select	c.1434+16875A>G		intron	N/A	NP_079057.3	Q68D86-1
	CCDC102B	NM_001093729.2		c.1434+16875A>G		intron	N/A	NP_001087198.2	Q68D86-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCDC102B	ENST00000360242.9	TSL:1 MANE Select	c.1434+16875A>G		intron	N/A	ENSP00000353377.5	Q68D86-1
	CCDC102B	ENST00000903417.1		c.1434+16875A>G		intron	N/A	ENSP00000573476.1
	CCDC102B	ENST00000903418.1		c.1434+16875A>G		intron	N/A	ENSP00000573477.1

Frequencies

GnomAD3 genomes AF: 0.825 AC: 125373 AN: 151978 Hom.: 53899 Cov.: 32

Gnomad AFR AF: 0.578

Gnomad AMI AF: 0.996

Gnomad AMR AF: 0.845

Gnomad ASJ AF: 0.960

Gnomad EAS AF: 0.610

Gnomad SAS AF: 0.906

Gnomad FIN AF: 0.925

Gnomad MID AF: 0.877

Gnomad NFE AF: 0.955

Gnomad OTH AF: 0.850

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

GnomAD4 genome AF: 0.824 AC: 125377 AN: 152096 Hom.: 53881 Cov.: 32 AF XY: 0.824 AC XY: 61232 AN XY: 74350

African (AFR) AF: 0.577 AC: 23936 AN: 41448

American (AMR) AF: 0.844 AC: 12901 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.960 AC: 3332 AN: 3472

East Asian (EAS) AF: 0.608 AC: 3133 AN: 5152

South Asian (SAS) AF: 0.906 AC: 4369 AN: 4824

European-Finnish (FIN) AF: 0.925 AC: 9800 AN: 10596

Middle Eastern (MID) AF: 0.867 AC: 255 AN: 294

European-Non Finnish (NFE) AF: 0.955 AC: 64959 AN: 68010

Other (OTH) AF: 0.845 AC: 1784 AN: 2110

Alfa AF: 0.921 Hom.: 31624

Bravo AF: 0.804

Asia WGS AF: 0.712 AC: 2478 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.9
DANN	Benign	0.68
PhyloP100		-0.10
Mutation Taster		=100/0	polymorphism (auto)

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: rs1982040; hg19: chr18-66695216;