rs7664025

chr4-90774768-T-C

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The NM_001145065.2(CCSER1):c.2011-40994T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.671 in 151,858 control chromosomes in the GnomAD database, including 34,429 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 0.67 (34429 hom., cov: 31)
• Consequence: CCSER1 NM_001145065.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.432

Genes affected

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

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.33).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.737 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CCSER1	NM_001145065.2	c.2011-40994T>C		intron_variant		ENST00000509176.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CCSER1	ENST00000509176.6	c.2011-40994T>C		intron_variant		1	NM_001145065.2	P1

Frequencies

GnomAD3 genomes AF: 0.671 AC: 101785 AN: 151740 Hom.: 34381 Cov.: 31

Gnomad AFR AF: 0.744

Gnomad AMI AF: 0.666

Gnomad AMR AF: 0.584

Gnomad ASJ AF: 0.552

Gnomad EAS AF: 0.678

Gnomad SAS AF: 0.653

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.551

Gnomad NFE AF: 0.664

Gnomad OTH AF: 0.634

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

GnomAD4 genome AF: 0.671 AC: 101886 AN: 151858 Hom.: 34429 Cov.: 31 AF XY: 0.667 AC XY: 49488 AN XY: 74190

Gnomad4 AFR AF: 0.744

Gnomad4 AMR AF: 0.584

Gnomad4 ASJ AF: 0.552

Gnomad4 EAS AF: 0.678

Gnomad4 SAS AF: 0.653

Gnomad4 FIN AF: 0.608

Gnomad4 NFE AF: 0.664

Gnomad4 OTH AF: 0.637

Alfa AF: 0.653 Hom.: 6243

Bravo AF: 0.673

Asia WGS AF: 0.689 AC: 2388 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.33
Cadd	Benign	8.3
Dann	Benign	0.75

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: rs7664025; hg19: chr4-91695919;