rs7005110

Variant names:

• chr8-88748391-A-G
• rs7005110
• ENST00000649573.1:n.141+48042A>G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000649573.1(ENSG00000253553):​n.141+48042A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.241 in 152,022 control chromosomes in the GnomAD database, including 4,829 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 0.24 (4829 hom., cov: 32)
• Consequence: ENSG00000253553 ENST00000649573.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.308

Genes affected

ENSG00000253553 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.317 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105375630	XR_001745653.3	n.356-77273A>G		intron_variant	Intron 3 of 7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000253553	ENST00000649573.1	n.141+48042A>G		intron_variant	Intron 2 of 7
ENSG00000253553	ENST00000653184.1	n.144+48042A>G		intron_variant	Intron 2 of 6
ENSG00000253553	ENST00000659668.1	n.176+48042A>G		intron_variant	Intron 2 of 6

Frequencies

GnomAD3 genomes AF: 0.241 AC: 36649 AN: 151902 Hom.: 4813 Cov.: 32

Gnomad AFR AF: 0.321

Gnomad AMI AF: 0.289

Gnomad AMR AF: 0.307

Gnomad ASJ AF: 0.222

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.315

Gnomad FIN AF: 0.161

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.189

Gnomad OTH AF: 0.259

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

GnomAD4 genome AF: 0.241 AC: 36700 AN: 152022 Hom.: 4829 Cov.: 32 AF XY: 0.244 AC XY: 18144 AN XY: 74318

Gnomad4 AFR AF: 0.321

Gnomad4 AMR AF: 0.307

Gnomad4 ASJ AF: 0.222

Gnomad4 EAS AF: 0.189

Gnomad4 SAS AF: 0.314

Gnomad4 FIN AF: 0.161

Gnomad4 NFE AF: 0.189

Gnomad4 OTH AF: 0.263

Alfa AF: 0.223 Hom.: 939

Bravo AF: 0.255

Asia WGS AF: 0.329 AC: 1138 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.51
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7005110; hg19: chr8-89760620;