rs327747

chr7-81235204-T-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 0.425 in 152,094 control chromosomes in the GnomAD database, including 15,435 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 0.43 (15435 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.389

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.546 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: 0.425 AC: 64651 AN: 151976 Hom.: 15431 Cov.: 32

Gnomad AFR AF: 0.255

Gnomad AMI AF: 0.607

Gnomad AMR AF: 0.373

Gnomad ASJ AF: 0.524

Gnomad EAS AF: 0.0871

Gnomad SAS AF: 0.391

Gnomad FIN AF: 0.492

Gnomad MID AF: 0.421

Gnomad NFE AF: 0.551

Gnomad OTH AF: 0.422

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

GnomAD4 genome AF: 0.425 AC: 64667 AN: 152094 Hom.: 15435 Cov.: 32 AF XY: 0.421 AC XY: 31311 AN XY: 74338

Gnomad4 AFR AF: 0.255

Gnomad4 AMR AF: 0.373

Gnomad4 ASJ AF: 0.524

Gnomad4 EAS AF: 0.0875

Gnomad4 SAS AF: 0.391

Gnomad4 FIN AF: 0.492

Gnomad4 NFE AF: 0.551

Gnomad4 OTH AF: 0.426

Alfa AF: 0.482 Hom.: 2317

Bravo AF: 0.408

Asia WGS AF: 0.270 AC: 941 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
Cadd	Benign	1.4
Dann	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs327747; hg19: chr7-80864520;