16-14335177-C-G

Variant names:

• chr16-14335177-C-G
• rs30207

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 0.471 in 151,898 control chromosomes in the GnomAD database, including 16,998 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 0.47 (16998 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.688
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.541 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: 0.472 AC: 71595 AN: 151780 Hom.: 17003 Cov.: 31

Gnomad AFR AF: 0.434

Gnomad AMI AF: 0.421

Gnomad AMR AF: 0.416

Gnomad ASJ AF: 0.392

Gnomad EAS AF: 0.559

Gnomad SAS AF: 0.383

Gnomad FIN AF: 0.490

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.508

Gnomad OTH AF: 0.500

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

GnomAD4 genome AF: 0.471 AC: 71607 AN: 151898 Hom.: 16998 Cov.: 31 AF XY: 0.467 AC XY: 34689 AN XY: 74230

African (AFR) AF: 0.434 AC: 17950 AN: 41396

American (AMR) AF: 0.416 AC: 6343 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.392 AC: 1361 AN: 3468

East Asian (EAS) AF: 0.558 AC: 2879 AN: 5162

South Asian (SAS) AF: 0.382 AC: 1839 AN: 4810

European-Finnish (FIN) AF: 0.490 AC: 5166 AN: 10542

Middle Eastern (MID) AF: 0.459 AC: 135 AN: 294

European-Non Finnish (NFE) AF: 0.508 AC: 34488 AN: 67940

Other (OTH) AF: 0.503 AC: 1062 AN: 2110

Alfa AF: 0.294 Hom.: 592

Bravo AF: 0.462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.0
DANN	Benign	0.72
PhyloP100		-0.69

Splicing

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

Other links and lift over

dbSNP: rs30207; hg19: chr16-14429034; COSMIC: COSV53424085;