rs11761356

Positions:

• chr7-21203899-T-C
• chr7-21203899-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 0.609 in 150,350 control chromosomes in the GnomAD database, including 30,263 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 0.61 (30263 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0700

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.733 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: 0.610 AC: 91572 AN: 150234 Hom.: 30258 Cov.: 27

Gnomad AFR AF: 0.340

Gnomad AMI AF: 0.710

Gnomad AMR AF: 0.656

Gnomad ASJ AF: 0.774

Gnomad EAS AF: 0.575

Gnomad SAS AF: 0.574

Gnomad FIN AF: 0.720

Gnomad MID AF: 0.764

Gnomad NFE AF: 0.738

Gnomad OTH AF: 0.657

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

GnomAD4 genome AF: 0.609 AC: 91601 AN: 150350 Hom.: 30263 Cov.: 27 AF XY: 0.611 AC XY: 44733 AN XY: 73204

Gnomad4 AFR AF: 0.340

Gnomad4 AMR AF: 0.656

Gnomad4 ASJ AF: 0.774

Gnomad4 EAS AF: 0.576

Gnomad4 SAS AF: 0.575

Gnomad4 FIN AF: 0.720

Gnomad4 NFE AF: 0.738

Gnomad4 OTH AF: 0.650

Alfa AF: 0.710 Hom.: 38776

Bravo AF: 0.593

Asia WGS AF: 0.574 AC: 1998 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	5.8
DANN	Benign	0.88

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11761356; hg19: chr7-21243518;