rs7335400

Variant names:

• chr13-37529015-A-C
• rs7335400

Your query was ambiguous. Multiple possible variants found:

• chr13-37529015-A-C
• chr13-37529015-A-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.15 in 151,916 control chromosomes in the GnomAD database, including 2,006 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 0.15 (2006 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.331
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.344 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: 0.150 AC: 22785 AN: 151798 Hom.: 2005 Cov.: 33

Gnomad AFR AF: 0.0856

Gnomad AMI AF: 0.126

Gnomad AMR AF: 0.194

Gnomad ASJ AF: 0.115

Gnomad EAS AF: 0.358

Gnomad SAS AF: 0.214

Gnomad FIN AF: 0.206

Gnomad MID AF: 0.108

Gnomad NFE AF: 0.153

Gnomad OTH AF: 0.151

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

GnomAD4 genome AF: 0.150 AC: 22785 AN: 151916 Hom.: 2006 Cov.: 33 AF XY: 0.156 AC XY: 11579 AN XY: 74252

African (AFR) AF: 0.0854 AC: 3531 AN: 41346

American (AMR) AF: 0.195 AC: 2970 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.115 AC: 400 AN: 3470

East Asian (EAS) AF: 0.358 AC: 1847 AN: 5162

South Asian (SAS) AF: 0.214 AC: 1032 AN: 4830

European-Finnish (FIN) AF: 0.206 AC: 2176 AN: 10564

Middle Eastern (MID) AF: 0.105 AC: 31 AN: 294

European-Non Finnish (NFE) AF: 0.153 AC: 10369 AN: 67976

Other (OTH) AF: 0.149 AC: 315 AN: 2110

Alfa AF: 0.139 Hom.: 916

Bravo AF: 0.147

Asia WGS AF: 0.276 AC: 956 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	3.1
DANN	Benign	0.63
PhyloP100		0.33

Splicing

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

Other links and lift over

dbSNP: rs7335400; hg19: chr13-38103152;