rs9837561

Positions:

• chr3-3608555-A-C

Variant summary

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

The ENST00000420000.6(ENSG00000223727):​n.200+18189T>G 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 0.135 in 152,122 control chromosomes in the GnomAD database, including 2,240 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 0.14 (2240 hom., cov: 32)
• Consequence: ENST00000420000.6 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.301 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
	ENST00000420000.6	n.200+18189T>G		intron_variant, non_coding_transcript_variant		4

Frequencies

GnomAD3 genomes AF: 0.135 AC: 20576 AN: 152006 Hom.: 2242 Cov.: 32

Gnomad AFR AF: 0.306

Gnomad AMI AF: 0.0702

Gnomad AMR AF: 0.0824

Gnomad ASJ AF: 0.130

Gnomad EAS AF: 0.00424

Gnomad SAS AF: 0.0458

Gnomad FIN AF: 0.0307

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.0777

Gnomad OTH AF: 0.131

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

GnomAD4 genome AF: 0.135 AC: 20600 AN: 152122 Hom.: 2240 Cov.: 32 AF XY: 0.130 AC XY: 9635 AN XY: 74380

Gnomad4 AFR AF: 0.306

Gnomad4 AMR AF: 0.0823

Gnomad4 ASJ AF: 0.130

Gnomad4 EAS AF: 0.00425

Gnomad4 SAS AF: 0.0459

Gnomad4 FIN AF: 0.0307

Gnomad4 NFE AF: 0.0777

Gnomad4 OTH AF: 0.130

Alfa AF: 0.0914 Hom.: 1028

Bravo AF: 0.148

Asia WGS AF: 0.0460 AC: 162 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.5
DANN	Benign	0.14

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9837561; hg19: chr3-3650239;