chr10-120329400-G-A

Variant names:

• chr10-120329400-G-A
• rs7068990
• ENST00000794040.1:n.277-7121G>A

Variant summary

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

The ENST00000794040.1(ENSG00000303377):​n.277-7121G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.229 in 151,178 control chromosomes in the GnomAD database, including 4,299 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 0.23 (4299 hom., cov: 31)
• Consequence: ENSG00000303377 ENST00000794040.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.306
• Publications: 2 publications found

Genes affected

ENSG00000303377 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.322 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105378515	XR_001747606.1	n.994-7121G>A		intron_variant	Intron 7 of 7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000303377	ENST00000794040.1	n.277-7121G>A		intron_variant	Intron 3 of 3

Frequencies

GnomAD3 genomes AF: 0.229 AC: 34544 AN: 151062 Hom.: 4295 Cov.: 31

Gnomad AFR AF: 0.187

Gnomad AMI AF: 0.364

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.253

Gnomad EAS AF: 0.253

Gnomad SAS AF: 0.336

Gnomad FIN AF: 0.406

Gnomad MID AF: 0.0892

Gnomad NFE AF: 0.229

Gnomad OTH AF: 0.222

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

GnomAD4 genome AF: 0.229 AC: 34555 AN: 151178 Hom.: 4299 Cov.: 31 AF XY: 0.237 AC XY: 17551 AN XY: 73926

African (AFR) AF: 0.187 AC: 7591 AN: 40640

American (AMR) AF: 0.165 AC: 2520 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.253 AC: 878 AN: 3466

East Asian (EAS) AF: 0.253 AC: 1306 AN: 5160

South Asian (SAS) AF: 0.335 AC: 1615 AN: 4816

European-Finnish (FIN) AF: 0.406 AC: 4288 AN: 10566

Middle Eastern (MID) AF: 0.0822 AC: 24 AN: 292

European-Non Finnish (NFE) AF: 0.229 AC: 15538 AN: 67960

Other (OTH) AF: 0.221 AC: 464 AN: 2104

Alfa AF: 0.230 Hom.: 3135

Bravo AF: 0.205

Asia WGS AF: 0.291 AC: 1009 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.1
DANN	Benign	0.34
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs7068990; hg19: chr10-122088912;