rs7787327

Variant names:

• chr7-42317465-G-A
• rs7787327

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 0.0352 in 152,156 control chromosomes in the GnomAD database, including 126 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 0.035 (126 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0548 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: 0.0352 AC: 5353 AN: 152038 Hom.: 126 Cov.: 32

Gnomad AFR AF: 0.0105

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.0374

Gnomad ASJ AF: 0.0553

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.00622

Gnomad FIN AF: 0.0151

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0563

Gnomad OTH AF: 0.0421

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

GnomAD4 genome AF: 0.0352 AC: 5349 AN: 152156 Hom.: 126 Cov.: 32 AF XY: 0.0324 AC XY: 2408 AN XY: 74384

Gnomad4 AFR AF: 0.0105

Gnomad4 AMR AF: 0.0374

Gnomad4 ASJ AF: 0.0553

Gnomad4 EAS AF: 0.000193

Gnomad4 SAS AF: 0.00623

Gnomad4 FIN AF: 0.0151

Gnomad4 NFE AF: 0.0563

Gnomad4 OTH AF: 0.0417

Alfa AF: 0.0410 Hom.: 14

Bravo AF: 0.0362

Asia WGS AF: 0.00695 AC: 24 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.1
DANN	Benign	0.25

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7787327; hg19: chr7-42357064;