7-150986256-G-A

Variant names:

• chr7-150986256-G-A
• rs10277237

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 20 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.462 AC: 19138 AN: 41400

American (AMR) AF: 0.371 AC: 5666 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.314 AC: 1089 AN: 3468

East Asian (EAS) AF: 0.752 AC: 3857 AN: 5132

South Asian (SAS) AF: 0.415 AC: 1997 AN: 4814

European-Finnish (FIN) AF: 0.298 AC: 3144 AN: 10552

Middle Eastern (MID) AF: 0.316 AC: 93 AN: 294

European-Non Finnish (NFE) AF: 0.237 AC: 16130 AN: 67980

Other (OTH) AF: 0.327 AC: 690 AN: 2110

Alfa AF: 0.299 Hom.: 957

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
PhyloP100		-0.39

Splicing

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

Other links and lift over

dbSNP: rs10277237; hg19: chr7-150683344;