rs3104964

chr8-95583508-G-Achr8-95583508-G-C

Variant summary

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

The NR_038201.1(CFAP418-AS1):n.282-27156G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.568 in 152,004 control chromosomes in the GnomAD database, including 24,651 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 0.57 (24651 hom., cov: 33)
• Consequence: CFAP418-AS1 NR_038201.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.622

Genes affected

CFAP418-AS1 (HGNC:50444): (CFAP418 antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.601 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CFAP418-AS1	NR_038201.1	n.282-27156G>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CFAP418-AS1	ENST00000655917.1	n.297-27156G>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.568 AC: 86234 AN: 151888 Hom.: 24640 Cov.: 33

Gnomad AFR AF: 0.493

Gnomad AMI AF: 0.651

Gnomad AMR AF: 0.573

Gnomad ASJ AF: 0.554

Gnomad EAS AF: 0.521

Gnomad SAS AF: 0.621

Gnomad FIN AF: 0.635

Gnomad MID AF: 0.525

Gnomad NFE AF: 0.601

Gnomad OTH AF: 0.562

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

GnomAD4 genome AF: 0.568 AC: 86279 AN: 152004 Hom.: 24651 Cov.: 33 AF XY: 0.570 AC XY: 42325 AN XY: 74294

Gnomad4 AFR AF: 0.494

Gnomad4 AMR AF: 0.573

Gnomad4 ASJ AF: 0.554

Gnomad4 EAS AF: 0.522

Gnomad4 SAS AF: 0.619

Gnomad4 FIN AF: 0.635

Gnomad4 NFE AF: 0.601

Gnomad4 OTH AF: 0.559

Alfa AF: 0.554 Hom.: 5844

Bravo AF: 0.558

Asia WGS AF: 0.595 AC: 2069 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
Cadd	Benign	3.2
Dann	Benign	0.18

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs3104964; hg19: chr8-96595736;