rs6928844

Variant names:

• chr6-114748553-C-G
• rs6928844
• ENST00000751286.1:n.394+32766C>G

Your query was ambiguous. Multiple possible variants found:

• chr6-114748553-C-G
• chr6-114748553-C-T

Variant summary

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

The ENST00000751286.1(ENSG00000287097):​n.394+32766C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.153 in 151,992 control chromosomes in the GnomAD database, including 2,034 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 (2034 hom., cov: 32)
• Consequence: ENSG00000287097 ENST00000751286.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.70
• Publications: 3 publications found

Genes affected

ENSG00000287097 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.198 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000751286.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000287097	ENST00000751286.1		n.394+32766C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.153 AC: 23247 AN: 151872 Hom.: 2034 Cov.: 32

Gnomad AFR AF: 0.0763

Gnomad AMI AF: 0.212

Gnomad AMR AF: 0.129

Gnomad ASJ AF: 0.286

Gnomad EAS AF: 0.0469

Gnomad SAS AF: 0.156

Gnomad FIN AF: 0.184

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.200

Gnomad OTH AF: 0.161

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

GnomAD4 genome AF: 0.153 AC: 23243 AN: 151992 Hom.: 2034 Cov.: 32 AF XY: 0.151 AC XY: 11242 AN XY: 74296

African (AFR) AF: 0.0762 AC: 3162 AN: 41522

American (AMR) AF: 0.129 AC: 1966 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.286 AC: 991 AN: 3468

East Asian (EAS) AF: 0.0470 AC: 243 AN: 5172

South Asian (SAS) AF: 0.156 AC: 752 AN: 4826

European-Finnish (FIN) AF: 0.184 AC: 1951 AN: 10576

Middle Eastern (MID) AF: 0.160 AC: 47 AN: 294

European-Non Finnish (NFE) AF: 0.200 AC: 13601 AN: 67872

Other (OTH) AF: 0.160 AC: 337 AN: 2104

Alfa AF: 0.0611 Hom.: 75

Bravo AF: 0.144

Asia WGS AF: 0.106 AC: 370 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.16
DANN	Benign	0.34
PhyloP100		-2.7

Splicing

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

Other links and lift over

dbSNP: rs6928844; hg19: chr6-115069717;