rs7186144

Variant names:

• chr16-51942024-C-T
• rs7186144

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 0.564 in 151,908 control chromosomes in the GnomAD database, including 25,721 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 0.56 (25721 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.439
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.754 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: 0.564 AC: 85619 AN: 151792 Hom.: 25698 Cov.: 31

Gnomad AFR AF: 0.336

Gnomad AMI AF: 0.684

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.671

Gnomad EAS AF: 0.773

Gnomad SAS AF: 0.639

Gnomad FIN AF: 0.601

Gnomad MID AF: 0.650

Gnomad NFE AF: 0.645

Gnomad OTH AF: 0.604

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

GnomAD4 genome AF: 0.564 AC: 85679 AN: 151908 Hom.: 25721 Cov.: 31 AF XY: 0.566 AC XY: 42049 AN XY: 74232

African (AFR) AF: 0.336 AC: 13913 AN: 41426

American (AMR) AF: 0.663 AC: 10112 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.671 AC: 2324 AN: 3462

East Asian (EAS) AF: 0.774 AC: 3992 AN: 5158

South Asian (SAS) AF: 0.638 AC: 3077 AN: 4822

European-Finnish (FIN) AF: 0.601 AC: 6330 AN: 10526

Middle Eastern (MID) AF: 0.654 AC: 191 AN: 292

European-Non Finnish (NFE) AF: 0.645 AC: 43837 AN: 67944

Other (OTH) AF: 0.608 AC: 1282 AN: 2108

Alfa AF: 0.627 Hom.: 23609

Bravo AF: 0.562

Asia WGS AF: 0.706 AC: 2455 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.88
DANN	Benign	0.34
PhyloP100		-0.44

Splicing

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

Other links and lift over

dbSNP: rs7186144; hg19: chr16-51975936;