6-141050811-T-C

Variant names:

• chr6-141050811-T-C
• rs1832445

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 0.682 in 151,892 control chromosomes in the GnomAD database, including 36,002 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 0.68 (36002 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.787 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: 0.682 AC: 103548 AN: 151774 Hom.: 35969 Cov.: 31

Gnomad AFR AF: 0.795

Gnomad AMI AF: 0.509

Gnomad AMR AF: 0.587

Gnomad ASJ AF: 0.599

Gnomad EAS AF: 0.408

Gnomad SAS AF: 0.511

Gnomad FIN AF: 0.632

Gnomad MID AF: 0.777

Gnomad NFE AF: 0.682

Gnomad OTH AF: 0.689

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

GnomAD4 genome AF: 0.682 AC: 103619 AN: 151892 Hom.: 36002 Cov.: 31 AF XY: 0.673 AC XY: 49932 AN XY: 74178

Gnomad4 AFR AF: 0.795

Gnomad4 AMR AF: 0.586

Gnomad4 ASJ AF: 0.599

Gnomad4 EAS AF: 0.408

Gnomad4 SAS AF: 0.509

Gnomad4 FIN AF: 0.632

Gnomad4 NFE AF: 0.682

Gnomad4 OTH AF: 0.687

Alfa AF: 0.662 Hom.: 10208

Bravo AF: 0.684

Asia WGS AF: 0.508 AC: 1766 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.76
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1832445; hg19: chr6-141371948;