rs310008

Variant names:

• chr16-81440044-C-G
• rs310008

Your query was ambiguous. Multiple possible variants found:

• chr16-81440044-C-G
• chr16-81440044-C-T

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 0.219 in 152,070 control chromosomes in the GnomAD database, including 6,726 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 0.22 (6726 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0420
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.534 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.219 AC: 33209 AN: 151952 Hom.: 6712 Cov.: 32

Gnomad AFR AF: 0.540

Gnomad AMI AF: 0.137

Gnomad AMR AF: 0.214

Gnomad ASJ AF: 0.0576

Gnomad EAS AF: 0.124

Gnomad SAS AF: 0.155

Gnomad FIN AF: 0.0487

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0737

Gnomad OTH AF: 0.178

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

GnomAD4 genome AF: 0.219 AC: 33260 AN: 152070 Hom.: 6726 Cov.: 32 AF XY: 0.216 AC XY: 16048 AN XY: 74336

African (AFR) AF: 0.539 AC: 22351 AN: 41430

American (AMR) AF: 0.214 AC: 3268 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.0576 AC: 200 AN: 3470

East Asian (EAS) AF: 0.125 AC: 644 AN: 5164

South Asian (SAS) AF: 0.153 AC: 739 AN: 4824

European-Finnish (FIN) AF: 0.0487 AC: 516 AN: 10588

Middle Eastern (MID) AF: 0.0884 AC: 26 AN: 294

European-Non Finnish (NFE) AF: 0.0737 AC: 5010 AN: 67996

Other (OTH) AF: 0.181 AC: 381 AN: 2110

Alfa AF: 0.0350 Hom.: 46

Bravo AF: 0.246

Asia WGS AF: 0.174 AC: 605 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.1
DANN	Benign	0.61
PhyloP100		-0.042

Splicing

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

Other links and lift over

dbSNP: rs310008; hg19: chr16-81473649;