rs7214914

Variant names:

• chr17-43483366-T-C
• rs7214914

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 0.4 in 152,060 control chromosomes in the GnomAD database, including 13,262 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 0.40 (13262 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.604
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.487 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: 0.400 AC: 60732 AN: 151944 Hom.: 13256 Cov.: 32

Gnomad AFR AF: 0.223

Gnomad AMI AF: 0.492

Gnomad AMR AF: 0.444

Gnomad ASJ AF: 0.480

Gnomad EAS AF: 0.266

Gnomad SAS AF: 0.418

Gnomad FIN AF: 0.458

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.491

Gnomad OTH AF: 0.419

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

GnomAD4 genome AF: 0.400 AC: 60756 AN: 152060 Hom.: 13262 Cov.: 32 AF XY: 0.398 AC XY: 29567 AN XY: 74324

African (AFR) AF: 0.222 AC: 9223 AN: 41484

American (AMR) AF: 0.444 AC: 6775 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.480 AC: 1665 AN: 3472

East Asian (EAS) AF: 0.266 AC: 1372 AN: 5162

South Asian (SAS) AF: 0.417 AC: 2014 AN: 4826

European-Finnish (FIN) AF: 0.458 AC: 4834 AN: 10560

Middle Eastern (MID) AF: 0.439 AC: 129 AN: 294

European-Non Finnish (NFE) AF: 0.491 AC: 33407 AN: 67980

Other (OTH) AF: 0.421 AC: 888 AN: 2108

Alfa AF: 0.449 Hom.: 6927

Bravo AF: 0.388

Asia WGS AF: 0.366 AC: 1274 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	1.8
DANN	Benign	0.47
PhyloP100		-0.60

Splicing

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

Other links and lift over

dbSNP: rs7214914; hg19: chr17-41560734;