chr4-63016167-C-T

Variant names:

• chr4-63016167-C-T
• rs9312101

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.196 in 152,010 control chromosomes in the GnomAD database, including 3,300 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 0.20 (3300 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.415
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.245 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.196 AC: 29718 AN: 151890 Hom.: 3298 Cov.: 32

Gnomad AFR AF: 0.0852

Gnomad AMI AF: 0.316

Gnomad AMR AF: 0.252

Gnomad ASJ AF: 0.207

Gnomad EAS AF: 0.153

Gnomad SAS AF: 0.215

Gnomad FIN AF: 0.231

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.243

Gnomad OTH AF: 0.217

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

GnomAD4 genome AF: 0.196 AC: 29724 AN: 152010 Hom.: 3300 Cov.: 32 AF XY: 0.196 AC XY: 14535 AN XY: 74296

African (AFR) AF: 0.0852 AC: 3536 AN: 41526

American (AMR) AF: 0.252 AC: 3845 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.207 AC: 720 AN: 3472

East Asian (EAS) AF: 0.153 AC: 790 AN: 5164

South Asian (SAS) AF: 0.216 AC: 1040 AN: 4824

European-Finnish (FIN) AF: 0.231 AC: 2442 AN: 10558

Middle Eastern (MID) AF: 0.306 AC: 90 AN: 294

European-Non Finnish (NFE) AF: 0.243 AC: 16518 AN: 67884

Other (OTH) AF: 0.215 AC: 455 AN: 2112

Alfa AF: 0.211 Hom.: 499

Bravo AF: 0.196

Asia WGS AF: 0.177 AC: 615 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	8.0
DANN	Benign	0.82
PhyloP100		0.41

Splicing

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

Other links and lift over

dbSNP: rs9312101; hg19: chr4-63881885;