rs7760387

Variant names:

• chr6-144967129-A-C
• rs7760387

Your query was ambiguous. Multiple possible variants found:

• chr6-144967129-A-C
• chr6-144967129-A-G

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 0.261 in 151,972 control chromosomes in the GnomAD database, including 7,587 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 0.26 (7587 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.681

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.525 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: 0.260 AC: 39542 AN: 151854 Hom.: 7565 Cov.: 32

Gnomad AFR AF: 0.509

Gnomad AMI AF: 0.185

Gnomad AMR AF: 0.201

Gnomad ASJ AF: 0.130

Gnomad EAS AF: 0.541

Gnomad SAS AF: 0.385

Gnomad FIN AF: 0.160

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.116

Gnomad OTH AF: 0.258

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

GnomAD4 genome AF: 0.261 AC: 39613 AN: 151972 Hom.: 7587 Cov.: 32 AF XY: 0.267 AC XY: 19828 AN XY: 74298

Gnomad4 AFR AF: 0.509

Gnomad4 AMR AF: 0.201

Gnomad4 ASJ AF: 0.130

Gnomad4 EAS AF: 0.542

Gnomad4 SAS AF: 0.384

Gnomad4 FIN AF: 0.160

Gnomad4 NFE AF: 0.116

Gnomad4 OTH AF: 0.263

Alfa AF: 0.148 Hom.: 4594

Bravo AF: 0.275

Asia WGS AF: 0.439 AC: 1529 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.90
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7760387; hg19: chr6-145288265;