rs434943

Variant names:

• chr14-68847342-G-A
• rs434943

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 0.269 in 151,984 control chromosomes in the GnomAD database, including 6,025 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 0.27 (6025 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.430
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.323 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: 0.269 AC: 40869 AN: 151868 Hom.: 6028 Cov.: 32

Gnomad AFR AF: 0.157

Gnomad AMI AF: 0.339

Gnomad AMR AF: 0.279

Gnomad ASJ AF: 0.235

Gnomad EAS AF: 0.190

Gnomad SAS AF: 0.265

Gnomad FIN AF: 0.368

Gnomad MID AF: 0.274

Gnomad NFE AF: 0.327

Gnomad OTH AF: 0.264

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

GnomAD4 genome AF: 0.269 AC: 40869 AN: 151984 Hom.: 6025 Cov.: 32 AF XY: 0.268 AC XY: 19888 AN XY: 74268

African (AFR) AF: 0.157 AC: 6507 AN: 41452

American (AMR) AF: 0.279 AC: 4266 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.235 AC: 815 AN: 3470

East Asian (EAS) AF: 0.190 AC: 981 AN: 5172

South Asian (SAS) AF: 0.265 AC: 1278 AN: 4814

European-Finnish (FIN) AF: 0.368 AC: 3870 AN: 10516

Middle Eastern (MID) AF: 0.281 AC: 82 AN: 292

European-Non Finnish (NFE) AF: 0.327 AC: 22214 AN: 67968

Other (OTH) AF: 0.260 AC: 548 AN: 2108

Alfa AF: 0.292 Hom.: 2321

Bravo AF: 0.257

Asia WGS AF: 0.217 AC: 750 AN: 3462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.79
DANN	Benign	0.45
PhyloP100		-0.43

Splicing

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

Other links and lift over

dbSNP: rs434943; hg19: chr14-69314059;