rs932231

chr14-21998645-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.307 in 151,696 control chromosomes in the GnomAD database, including 10,223 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 0.31 (10223 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.303

ACMG classification

Verdict is Benign. Variant got -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 = 0.615 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.307 AC: 46521 AN: 151578 Hom.: 10192 Cov.: 29

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.246

Gnomad AMR AF: 0.195

Gnomad ASJ AF: 0.188

Gnomad EAS AF: 0.201

Gnomad SAS AF: 0.134

Gnomad FIN AF: 0.119

Gnomad MID AF: 0.250

Gnomad NFE AF: 0.199

Gnomad OTH AF: 0.271

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

GnomAD4 genome AF: 0.307 AC: 46597 AN: 151696 Hom.: 10223 Cov.: 29 AF XY: 0.297 AC XY: 21994 AN XY: 74150

Gnomad4 AFR AF: 0.621

Gnomad4 AMR AF: 0.194

Gnomad4 ASJ AF: 0.188

Gnomad4 EAS AF: 0.202

Gnomad4 SAS AF: 0.134

Gnomad4 FIN AF: 0.119

Gnomad4 NFE AF: 0.199

Gnomad4 OTH AF: 0.268

Alfa AF: 0.264 Hom.: 932

Bravo AF: 0.329

Asia WGS AF: 0.215 AC: 747 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	2.1
Dann	Benign	0.26

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs932231; hg19: chr14-22466884;