7-44376473-G-C

Position:

• chr7-44376473-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 0.38 in 152,012 control chromosomes in the GnomAD database, including 11,432 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 0.38 (11432 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.838

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.521 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: 0.380 AC: 57670 AN: 151894 Hom.: 11419 Cov.: 32

Gnomad AFR AF: 0.272

Gnomad AMI AF: 0.422

Gnomad AMR AF: 0.494

Gnomad ASJ AF: 0.290

Gnomad EAS AF: 0.538

Gnomad SAS AF: 0.458

Gnomad FIN AF: 0.413

Gnomad MID AF: 0.383

Gnomad NFE AF: 0.400

Gnomad OTH AF: 0.391

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

GnomAD4 genome AF: 0.380 AC: 57694 AN: 152012 Hom.: 11432 Cov.: 32 AF XY: 0.385 AC XY: 28592 AN XY: 74300

Gnomad4 AFR AF: 0.271

Gnomad4 AMR AF: 0.495

Gnomad4 ASJ AF: 0.290

Gnomad4 EAS AF: 0.538

Gnomad4 SAS AF: 0.460

Gnomad4 FIN AF: 0.413

Gnomad4 NFE AF: 0.400

Gnomad4 OTH AF: 0.395

Alfa AF: 0.391 Hom.: 1501

Bravo AF: 0.381

Asia WGS AF: 0.502 AC: 1748 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	5.7
DANN	Benign	0.64

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6960920; hg19: chr7-44416072;