rs7787173

Variant names:

• chr7-131772384-T-A
• rs7787173

Your query was ambiguous. Multiple possible variants found:

• chr7-131772384-T-A
• chr7-131772384-T-C
• chr7-131772384-T-G

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 0.831 in 152,230 control chromosomes in the GnomAD database, including 52,927 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 0.83 (52927 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.564

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.887 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: 0.831 AC: 126409 AN: 152112 Hom.: 52890 Cov.: 34

Gnomad AFR AF: 0.740

Gnomad AMI AF: 0.965

Gnomad AMR AF: 0.879

Gnomad ASJ AF: 0.914

Gnomad EAS AF: 0.908

Gnomad SAS AF: 0.691

Gnomad FIN AF: 0.908

Gnomad MID AF: 0.858

Gnomad NFE AF: 0.862

Gnomad OTH AF: 0.838

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

GnomAD4 genome AF: 0.831 AC: 126498 AN: 152230 Hom.: 52927 Cov.: 34 AF XY: 0.831 AC XY: 61847 AN XY: 74446

Gnomad4 AFR AF: 0.740

Gnomad4 AMR AF: 0.879

Gnomad4 ASJ AF: 0.914

Gnomad4 EAS AF: 0.909

Gnomad4 SAS AF: 0.692

Gnomad4 FIN AF: 0.908

Gnomad4 NFE AF: 0.862

Gnomad4 OTH AF: 0.835

Alfa AF: 0.833 Hom.: 2738

Bravo AF: 0.829

Asia WGS AF: 0.799 AC: 2778 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7787173; hg19: chr7-131457143;