rs7732370

Variant names:

• chr5-121695435-G-A
• rs7732370

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 0.337 in 151,756 control chromosomes in the GnomAD database, including 9,459 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 0.34 (9459 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.318

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.412 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: 0.338 AC: 51188 AN: 151636 Hom.: 9458 Cov.: 31

Gnomad AFR AF: 0.206

Gnomad AMI AF: 0.341

Gnomad AMR AF: 0.298

Gnomad ASJ AF: 0.405

Gnomad EAS AF: 0.264

Gnomad SAS AF: 0.304

Gnomad FIN AF: 0.434

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.416

Gnomad OTH AF: 0.342

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

GnomAD4 genome AF: 0.337 AC: 51197 AN: 151756 Hom.: 9459 Cov.: 31 AF XY: 0.335 AC XY: 24862 AN XY: 74164

Gnomad4 AFR AF: 0.206

Gnomad4 AMR AF: 0.298

Gnomad4 ASJ AF: 0.405

Gnomad4 EAS AF: 0.264

Gnomad4 SAS AF: 0.302

Gnomad4 FIN AF: 0.434

Gnomad4 NFE AF: 0.416

Gnomad4 OTH AF: 0.343

Alfa AF: 0.394 Hom.: 15982

Bravo AF: 0.318

Asia WGS AF: 0.284 AC: 986 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.95
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7732370; hg19: chr5-121031130;