rs327747

Variant names:

• chr7-81235204-T-A
• rs327747

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 0.425 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.255 AC: 10564 AN: 41474

American (AMR) AF: 0.373 AC: 5698 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.524 AC: 1815 AN: 3462

East Asian (EAS) AF: 0.0875 AC: 452 AN: 5168

South Asian (SAS) AF: 0.391 AC: 1884 AN: 4820

European-Finnish (FIN) AF: 0.492 AC: 5210 AN: 10584

Middle Eastern (MID) AF: 0.429 AC: 126 AN: 294

European-Non Finnish (NFE) AF: 0.551 AC: 37467 AN: 67980

Other (OTH) AF: 0.426 AC: 899 AN: 2112

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
PhyloP100		-0.39

Splicing

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

Other links and lift over

dbSNP: rs327747; hg19: chr7-80864520;