rs10132760

chr14-21728267-C-Achr14-21728267-C-Gchr14-21728267-C-T

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 0.582 in 152,050 control chromosomes in the GnomAD database, including 27,065 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 0.58 (27065 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.256

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.694 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: 0.582 AC: 88451 AN: 151932 Hom.: 27061 Cov.: 32

Gnomad AFR AF: 0.394

Gnomad AMI AF: 0.678

Gnomad AMR AF: 0.590

Gnomad ASJ AF: 0.638

Gnomad EAS AF: 0.527

Gnomad SAS AF: 0.599

Gnomad FIN AF: 0.541

Gnomad MID AF: 0.585

Gnomad NFE AF: 0.699

Gnomad OTH AF: 0.613

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

GnomAD4 genome AF: 0.582 AC: 88485 AN: 152050 Hom.: 27065 Cov.: 32 AF XY: 0.575 AC XY: 42708 AN XY: 74332

Gnomad4 AFR AF: 0.393

Gnomad4 AMR AF: 0.590

Gnomad4 ASJ AF: 0.638

Gnomad4 EAS AF: 0.528

Gnomad4 SAS AF: 0.600

Gnomad4 FIN AF: 0.541

Gnomad4 NFE AF: 0.699

Gnomad4 OTH AF: 0.612

Alfa AF: 0.637 Hom.: 3924

Bravo AF: 0.577

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
Cadd	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10132760; hg19: chr14-22196541;