7-91577468-T-C

Position:

• chr7-91577468-T-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 0.641 in 152,162 control chromosomes in the GnomAD database, including 33,621 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 0.64 (33621 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.902

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.897 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: 0.640 AC: 97372 AN: 152044 Hom.: 33559 Cov.: 33

Gnomad AFR AF: 0.904

Gnomad AMI AF: 0.331

Gnomad AMR AF: 0.563

Gnomad ASJ AF: 0.524

Gnomad EAS AF: 0.831

Gnomad SAS AF: 0.601

Gnomad FIN AF: 0.530

Gnomad MID AF: 0.582

Gnomad NFE AF: 0.513

Gnomad OTH AF: 0.618

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

GnomAD4 genome AF: 0.641 AC: 97489 AN: 152162 Hom.: 33621 Cov.: 33 AF XY: 0.642 AC XY: 47730 AN XY: 74368

Gnomad4 AFR AF: 0.905

Gnomad4 AMR AF: 0.563

Gnomad4 ASJ AF: 0.524

Gnomad4 EAS AF: 0.831

Gnomad4 SAS AF: 0.601

Gnomad4 FIN AF: 0.530

Gnomad4 NFE AF: 0.513

Gnomad4 OTH AF: 0.621

Alfa AF: 0.529 Hom.: 43187

Bravo AF: 0.655

Asia WGS AF: 0.712 AC: 2471 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.55
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2540571; hg19: chr7-91206783;