rs5030625

Variant names:

• chr16-68736943-GA-G
• rs5030625

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

Variant has been reported in Lovd as Pathogenic (no stars).

• Frequency: Genomes: 𝑓 0.81 (50074 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.292

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.88 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: 0.806 AC: 122384 AN: 151870 Hom.: 50068 Cov.: 0

Gnomad AFR AF: 0.664

Gnomad AMI AF: 0.924

Gnomad AMR AF: 0.800

Gnomad ASJ AF: 0.931

Gnomad EAS AF: 0.771

Gnomad SAS AF: 0.783

Gnomad FIN AF: 0.825

Gnomad MID AF: 0.848

Gnomad NFE AF: 0.886

Gnomad OTH AF: 0.831

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

GnomAD4 genome AF: 0.806 AC: 122428 AN: 151988 Hom.: 50074 Cov.: 0 AF XY: 0.801 AC XY: 59487 AN XY: 74308

Gnomad4 AFR AF: 0.663

Gnomad4 AMR AF: 0.800

Gnomad4 ASJ AF: 0.931

Gnomad4 EAS AF: 0.771

Gnomad4 SAS AF: 0.783

Gnomad4 FIN AF: 0.825

Gnomad4 NFE AF: 0.886

Gnomad4 OTH AF: 0.828

Alfa AF: 0.811 Hom.: 2512

Bravo AF: 0.797

Asia WGS AF: 0.774 AC: 2694 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs5030625; hg19: chr16-68770846; COSMIC: COSV55727819;