rs10277237

Variant names:

• chr7-150986256-G-A
• rs10277237

Your query was ambiguous. Multiple possible variants found:

• chr7-150986256-G-A
• chr7-150986256-G-C

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 0.343 in 151,940 control chromosomes in the GnomAD database, including 10,177 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 (10177 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.390

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.732 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: 0.342 AC: 51964 AN: 151822 Hom.: 10144 Cov.: 32

Gnomad AFR AF: 0.462

Gnomad AMI AF: 0.261

Gnomad AMR AF: 0.370

Gnomad ASJ AF: 0.314

Gnomad EAS AF: 0.752

Gnomad SAS AF: 0.414

Gnomad FIN AF: 0.298

Gnomad MID AF: 0.326

Gnomad NFE AF: 0.237

Gnomad OTH AF: 0.318

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

GnomAD4 genome AF: 0.343 AC: 52042 AN: 151940 Hom.: 10177 Cov.: 32 AF XY: 0.350 AC XY: 25971 AN XY: 74246

Gnomad4 AFR AF: 0.462

Gnomad4 AMR AF: 0.371

Gnomad4 ASJ AF: 0.314

Gnomad4 EAS AF: 0.752

Gnomad4 SAS AF: 0.415

Gnomad4 FIN AF: 0.298

Gnomad4 NFE AF: 0.237

Gnomad4 OTH AF: 0.327

Alfa AF: 0.292 Hom.: 871

Bravo AF: 0.358

Asia WGS AF: 0.575 AC: 1994 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.9
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10277237; hg19: chr7-150683344;