rs7105418

Variant names:

• chr11-35237860-A-C
• rs7105418

Your query was ambiguous. Multiple possible variants found:

• chr11-35237860-A-C
• chr11-35237860-A-T

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 0.54 in 152,032 control chromosomes in the GnomAD database, including 22,695 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 0.54 (22695 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.39

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.596 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: 0.540 AC: 82015 AN: 151914 Hom.: 22679 Cov.: 32

Gnomad AFR AF: 0.400

Gnomad AMI AF: 0.648

Gnomad AMR AF: 0.578

Gnomad ASJ AF: 0.684

Gnomad EAS AF: 0.532

Gnomad SAS AF: 0.614

Gnomad FIN AF: 0.624

Gnomad MID AF: 0.617

Gnomad NFE AF: 0.589

Gnomad OTH AF: 0.542

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

GnomAD4 genome AF: 0.540 AC: 82074 AN: 152032 Hom.: 22695 Cov.: 32 AF XY: 0.547 AC XY: 40640 AN XY: 74290

Gnomad4 AFR AF: 0.400

Gnomad4 AMR AF: 0.578

Gnomad4 ASJ AF: 0.684

Gnomad4 EAS AF: 0.532

Gnomad4 SAS AF: 0.615

Gnomad4 FIN AF: 0.624

Gnomad4 NFE AF: 0.589

Gnomad4 OTH AF: 0.547

Alfa AF: 0.561 Hom.: 5166

Bravo AF: 0.526

Asia WGS AF: 0.571 AC: 1982 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.074
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7105418; hg19: chr11-35259407;