rs10954175

Variant names:

• chr7-128265504-G-A
• rs10954175

Your query was ambiguous. Multiple possible variants found:

• chr7-128265504-G-A
• chr7-128265504-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 0.433 in 152,068 control chromosomes in the GnomAD database, including 16,974 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 0.43 (16974 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.34

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.708 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: 0.433 AC: 65799 AN: 151950 Hom.: 16966 Cov.: 32

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.598

Gnomad AMR AF: 0.511

Gnomad ASJ AF: 0.552

Gnomad EAS AF: 0.727

Gnomad SAS AF: 0.546

Gnomad FIN AF: 0.518

Gnomad MID AF: 0.528

Gnomad NFE AF: 0.541

Gnomad OTH AF: 0.467

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

GnomAD4 genome AF: 0.433 AC: 65809 AN: 152068 Hom.: 16974 Cov.: 32 AF XY: 0.437 AC XY: 32480 AN XY: 74312

Gnomad4 AFR AF: 0.138

Gnomad4 AMR AF: 0.511

Gnomad4 ASJ AF: 0.552

Gnomad4 EAS AF: 0.728

Gnomad4 SAS AF: 0.547

Gnomad4 FIN AF: 0.518

Gnomad4 NFE AF: 0.542

Gnomad4 OTH AF: 0.473

Alfa AF: 0.459 Hom.: 4133

Bravo AF: 0.415

Asia WGS AF: 0.626 AC: 2174 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.086
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10954175; hg19: chr7-127905557;