rs3857047

Positions:

• chr4-89685367-T-G

Variant summary

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

The ENST00000612706.1(ENSG00000251095):​n.1085T>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.21 in 152,152 control chromosomes in the GnomAD database, including 4,737 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 0.21 (4737 hom., cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: ENSG00000251095 ENST00000612706.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.238

Genes affected

ENSG00000251095 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.412 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC124900602	XR_001741764.2	n.3863T>G		non_coding_transcript_exon_variant	1/3
LOC124900602	XR_007058465.1	n.3863T>G		non_coding_transcript_exon_variant	1/2
LOC124900602	XR_007058466.1	n.3863T>G		non_coding_transcript_exon_variant	1/3
LOC124900602	XR_938983.2	n.3863T>G		non_coding_transcript_exon_variant	1/3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ENSG00000251095	ENST00000612706.1	n.1085T>G		non_coding_transcript_exon_variant	2/2	5
ENSG00000251095	ENST00000506864.5	n.472-5918T>G		intron_variant		4
ENSG00000251095	ENST00000507916.6	n.135-5918T>G		intron_variant		3

Frequencies

GnomAD3 genomes AF: 0.210 AC: 31967 AN: 152034 Hom.: 4727 Cov.: 32

Gnomad AFR AF: 0.417

Gnomad AMI AF: 0.101

Gnomad AMR AF: 0.139

Gnomad ASJ AF: 0.121

Gnomad EAS AF: 0.00135

Gnomad SAS AF: 0.0685

Gnomad FIN AF: 0.139

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.145

Gnomad OTH AF: 0.176

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 2 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 2

Gnomad4 NFE exome AF: 0.00

GnomAD4 genome AF: 0.210 AC: 31994 AN: 152152 Hom.: 4737 Cov.: 32 AF XY: 0.205 AC XY: 15215 AN XY: 74382

Gnomad4 AFR AF: 0.417

Gnomad4 AMR AF: 0.139

Gnomad4 ASJ AF: 0.121

Gnomad4 EAS AF: 0.00135

Gnomad4 SAS AF: 0.0679

Gnomad4 FIN AF: 0.139

Gnomad4 NFE AF: 0.145

Gnomad4 OTH AF: 0.174

Alfa AF: 0.148 Hom.: 2871

Bravo AF: 0.219

Asia WGS AF: 0.0510 AC: 177 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.55
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3857047; hg19: chr4-90606518;