rs7140723

chr14-43636495-C-A

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 0.111 in 152,002 control chromosomes in the GnomAD database, including 1,074 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 0.11 (1074 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.712

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.145 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: 0.111 AC: 16867 AN: 151884 Hom.: 1075 Cov.: 32

Gnomad AFR AF: 0.0636

Gnomad AMI AF: 0.0943

Gnomad AMR AF: 0.0815

Gnomad ASJ AF: 0.0934

Gnomad EAS AF: 0.0183

Gnomad SAS AF: 0.136

Gnomad FIN AF: 0.151

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.147

Gnomad OTH AF: 0.103

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

GnomAD4 genome AF: 0.111 AC: 16872 AN: 152002 Hom.: 1074 Cov.: 32 AF XY: 0.109 AC XY: 8116 AN XY: 74290

Gnomad4 AFR AF: 0.0636

Gnomad4 AMR AF: 0.0815

Gnomad4 ASJ AF: 0.0934

Gnomad4 EAS AF: 0.0184

Gnomad4 SAS AF: 0.137

Gnomad4 FIN AF: 0.151

Gnomad4 NFE AF: 0.147

Gnomad4 OTH AF: 0.101

Alfa AF: 0.134 Hom.: 1208

Bravo AF: 0.101

Asia WGS AF: 0.0670 AC: 235 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
Cadd	Benign	0.35
Dann	Benign	0.28

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7140723; hg19: chr14-44105698;