rs10911736

Positions:

• chr1-185453472-G-A

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 0.262 in 152,008 control chromosomes in the GnomAD database, including 5,604 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 0.26 (5604 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=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.306 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: 0.262 AC: 39789 AN: 151890 Hom.: 5608 Cov.: 32

Gnomad AFR AF: 0.210

Gnomad AMI AF: 0.417

Gnomad AMR AF: 0.192

Gnomad ASJ AF: 0.179

Gnomad EAS AF: 0.108

Gnomad SAS AF: 0.240

Gnomad FIN AF: 0.364

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.309

Gnomad OTH AF: 0.246

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

GnomAD4 genome AF: 0.262 AC: 39786 AN: 152008 Hom.: 5604 Cov.: 32 AF XY: 0.261 AC XY: 19385 AN XY: 74288

Gnomad4 AFR AF: 0.209

Gnomad4 AMR AF: 0.192

Gnomad4 ASJ AF: 0.179

Gnomad4 EAS AF: 0.107

Gnomad4 SAS AF: 0.239

Gnomad4 FIN AF: 0.364

Gnomad4 NFE AF: 0.309

Gnomad4 OTH AF: 0.244

Alfa AF: 0.287 Hom.: 8433

Bravo AF: 0.245

Asia WGS AF: 0.170 AC: 589 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	6.4
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10911736; hg19: chr1-185422604;