rs758944

Variant names:

• chr7-76323980-C-A
• rs758944

Your query was ambiguous. Multiple possible variants found:

• chr7-76323980-C-A
• chr7-76323980-C-G
• chr7-76323980-C-T

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 0.299 in 152,112 control chromosomes in the GnomAD database, including 6,985 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 0.30 (6985 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.653

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 = 0.426 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: 0.299 AC: 45515 AN: 151994 Hom.: 6981 Cov.: 32

Gnomad AFR AF: 0.315

Gnomad AMI AF: 0.246

Gnomad AMR AF: 0.285

Gnomad ASJ AF: 0.200

Gnomad EAS AF: 0.440

Gnomad SAS AF: 0.209

Gnomad FIN AF: 0.364

Gnomad MID AF: 0.294

Gnomad NFE AF: 0.285

Gnomad OTH AF: 0.283

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

GnomAD4 genome AF: 0.299 AC: 45527 AN: 152112 Hom.: 6985 Cov.: 32 AF XY: 0.303 AC XY: 22547 AN XY: 74382

Gnomad4 AFR AF: 0.314

Gnomad4 AMR AF: 0.285

Gnomad4 ASJ AF: 0.200

Gnomad4 EAS AF: 0.441

Gnomad4 SAS AF: 0.208

Gnomad4 FIN AF: 0.364

Gnomad4 NFE AF: 0.285

Gnomad4 OTH AF: 0.282

Alfa AF: 0.289 Hom.: 14965

Bravo AF: 0.301

Asia WGS AF: 0.342 AC: 1193 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	2.1
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs758944; hg19: chr7-75953297;