rs1737060

Variant names:

• chr6-29765192-G-C
• rs1737060

Your query was ambiguous. Multiple possible variants found:

• chr6-29765192-G-C
• chr6-29765192-G-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 0.791 in 152,096 control chromosomes in the GnomAD database, including 47,850 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 0.79 (47850 hom., cov: 32)
• Consequence: LOC353010 intragenic
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00500

Genes affected

LOC353010 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.879 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC353010		n.29765192G>C		intragenic_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.791 AC: 120192 AN: 151978 Hom.: 47796 Cov.: 32

Gnomad AFR AF: 0.721

Gnomad AMI AF: 0.842

Gnomad AMR AF: 0.855

Gnomad ASJ AF: 0.869

Gnomad EAS AF: 0.901

Gnomad SAS AF: 0.872

Gnomad FIN AF: 0.689

Gnomad MID AF: 0.839

Gnomad NFE AF: 0.815

Gnomad OTH AF: 0.801

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

GnomAD4 genome AF: 0.791 AC: 120306 AN: 152096 Hom.: 47850 Cov.: 32 AF XY: 0.789 AC XY: 58635 AN XY: 74336

Gnomad4 AFR AF: 0.721

Gnomad4 AMR AF: 0.856

Gnomad4 ASJ AF: 0.869

Gnomad4 EAS AF: 0.901

Gnomad4 SAS AF: 0.873

Gnomad4 FIN AF: 0.689

Gnomad4 NFE AF: 0.815

Gnomad4 OTH AF: 0.803

Alfa AF: 0.801 Hom.: 6080

Bravo AF: 0.800

Asia WGS AF: 0.877 AC: 3050 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.7
DANN	Benign	0.21

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1737060; hg19: chr6-29732969;