rs2030972

Variant names:

• chr7-16019555-G-A
• rs2030972

Your query was ambiguous. Multiple possible variants found:

• chr7-16019555-G-A
• chr7-16019555-G-C
• chr7-16019555-G-T

Variant summary

Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4 BA1

The variant allele was found at a frequency of 0.338 in 151,858 control chromosomes in the GnomAD database, including 10,361 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 0.34 (10361 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.52

ACMG classification

Verdict is Benign. Variant got -9 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.15).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.517 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: 0.338 AC: 51293 AN: 151740 Hom.: 10351 Cov.: 31

Gnomad AFR AF: 0.120

Gnomad AMI AF: 0.325

Gnomad AMR AF: 0.438

Gnomad ASJ AF: 0.248

Gnomad EAS AF: 0.464

Gnomad SAS AF: 0.534

Gnomad FIN AF: 0.511

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.404

Gnomad OTH AF: 0.329

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

GnomAD4 genome AF: 0.338 AC: 51321 AN: 151858 Hom.: 10361 Cov.: 31 AF XY: 0.347 AC XY: 25748 AN XY: 74176

Gnomad4 AFR AF: 0.119

Gnomad4 AMR AF: 0.439

Gnomad4 ASJ AF: 0.248

Gnomad4 EAS AF: 0.464

Gnomad4 SAS AF: 0.534

Gnomad4 FIN AF: 0.511

Gnomad4 NFE AF: 0.404

Gnomad4 OTH AF: 0.331

Alfa AF: 0.368 Hom.: 9287

Bravo AF: 0.320

Asia WGS AF: 0.476 AC: 1656 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.15
CADD	Benign	23
DANN	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2030972; hg19: chr7-16059180;