rs10516869

Positions:

• chr4-90376285-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001145065.2(CCSER1):​c.1510-23751G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0476 in 152,194 control chromosomes in the GnomAD database, including 254 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 0.048 (254 hom., cov: 32)
• Consequence: CCSER1 NM_001145065.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.290

Genes affected

CCSER1 (HGNC:29349): (coiled-coil serine rich protein 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.174 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CCSER1	NM_001145065.2	c.1510-23751G>A		intron_variant		ENST00000509176.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CCSER1	ENST00000509176.6	c.1510-23751G>A		intron_variant		1	NM_001145065.2	P1

Frequencies

GnomAD3 genomes AF: 0.0476 AC: 7246 AN: 152076 Hom.: 254 Cov.: 32

Gnomad AFR AF: 0.0370

Gnomad AMI AF: 0.00110

Gnomad AMR AF: 0.0547

Gnomad ASJ AF: 0.0147

Gnomad EAS AF: 0.184

Gnomad SAS AF: 0.0704

Gnomad FIN AF: 0.0626

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.0406

Gnomad OTH AF: 0.0502

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

GnomAD4 genome AF: 0.0476 AC: 7247 AN: 152194 Hom.: 254 Cov.: 32 AF XY: 0.0497 AC XY: 3702 AN XY: 74418

Gnomad4 AFR AF: 0.0369

Gnomad4 AMR AF: 0.0547

Gnomad4 ASJ AF: 0.0147

Gnomad4 EAS AF: 0.184

Gnomad4 SAS AF: 0.0711

Gnomad4 FIN AF: 0.0626

Gnomad4 NFE AF: 0.0406

Gnomad4 OTH AF: 0.0506

Alfa AF: 0.0395 Hom.: 42

Bravo AF: 0.0465

Asia WGS AF: 0.128 AC: 444 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.1
DANN	Benign	0.55

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: rs10516869; hg19: chr4-91297436;